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1. ADPedKD: A Global Online Platform on the Management of Children With

Author

De Rechter, S, Bockenhauer, D, Guay-Woodford, LM, Liu, I, Mallett, AJ, Soliman, NA, Sylvestre, LC, Schaefer, F, Liebau, MC, Mekahli, D, Adamczyk, P, Akinci, N, Alpay, H, Ardelean, C, Ayasreh, N, Aydin, Z, Bael, A, Baudouin, V, Bayrakci, US, Bensman, A, Bialkevich, H, Biebuyck, A, Boyer, O, Bjanid, O, Brylka, A, Caliskan, S, Cambier, A, Camelio, A, Carbone, V, Charbit, M, Chiodini, B, Chirita, A, Cicek, N, Cerkauskiene, R, Collard, L, Conceicao, M, Constantinescu, I, Couderc, A, Crapella, B, Cvetkovic, M, Dima, B, Diomeda, F, Docx, M, Dolan, N, Dossier, C, Drozdz, D, Drube, J, Dunand, O, Dusan, P, Eid, LA, Emma, F, Hernandez, ME, Fila, M, Furlano, M, Gafencu, M, Ghuysen, M, Giani, M, Giordano, M, Girisgen, I, Godefroid, N, Godron-Dubrasquet, A, Gojkovic, I, Gonzalez, E, Gokce, I, Groothoff, JW, Guarino, S, Guffens, A, Hansen, P, Harambat, J, Haumann, S, He, G, Heidet, L, Helmy, R, Hemery, F, Hooman, N, Ilanas, B, Jankauskiene, A, Janssens, P, Karamaria, S, Kazyra, I, Koenig, J, Krid, S, Krug, P, Kwon, V, La Manna, A, Leroy, V, Litwin, M, Lombet, J, Longo, G, Lungu, AC, Mallawaarachchi, A, Marin, A, Marzuillo, P, Massella, L, Mastrangelo, A, McCarthy, H, Miklaszewska, M, Moczulska, A, Montini, G, Morawiec-Knysak, A, Morin, D, Murer, L, Negru, I, Nobili, F, Obrycki, L, Otoukesh, H, Ozcan, S, Pape, L, Papizh, S, Parvex, P, Pawlak-Bratkowska, M, Prikhodina, L, Prytula, A, Quinlan, C, Raes, A, Ranchin, B, Ranguelov, N, Repeckiene, R, Ronit, C, Salomon, R, Santagelo, R, Saygili, SK, Schaefer, S, Schreuder, M, Schurmans, T, Seeman, T, Segers, N, Sinha, M, Snauwaert, E, Spasojevic, B, Stabouli, S, Stoica, C, Stroescu, R, Szczepanik, E, Szczepanska, M, Taranta-Janusz, K, Teixeira, A, Thumfart, J, Tkaczyk, M, Torra, R, Torres, D, Tram, N, Utsch, B, Vande Walle, J, Vieux, R, Vitkevic, R, Wilhelm-Bals, A, Wuhl, E, Yildirim, ZY, Yuksel, S, and Zachwieja, K

Abstract

Background: Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenic cause of renal failure. For several decades, ADPKD was regarded as an adult-onset disease. In the past decade, it has become more widely appreciated that the disease course begins in childhood. However, evidence-based guidelines on how to manage and approach children diagnosed with or at risk of ADPKD are lacking. Also, scoring systems to stratify patients into risk categories have been established only for adults. Overall, there are insufficient data on the clinical course during childhood. We therefore initiated the global ADPedKD project to establish a large international pediatric ADPKD cohort for deep characterization. Methods: Global ADPedKD is an international multicenter observational study focusing on childhood-diagnosed ADPKD. This collaborative project is based on interoperable Web-based databases, comprising 7 regional and independent but uniformly organized chapters, namely Africa, Asia, Australia, Europe, North America, South America, and the United Kingdom. In the database, a detailed basic data questionnaire, including genetics, is used in combination with data entry from follow-up visits, to provide both retrospective and prospective longitudinal data on clinical, radiologic, and laboratory findings, as well as therapeutic interventions. Discussion: The global ADPedKD initiative aims to characterize in detail the most extensive international pediatric ADPKD cohort reported to date, providing evidence for the development of unified diagnostic, follow-up, and treatment recommendations regarding modifiable disease factors. Moreover, this registry will serve as a platform for the development of clinical and/or biochemical markers predicting the risk of early and progressive disease. C1 [De Rechter, Stephanie; Mekahli, Djalila] Univ Hosp Leuven, Dept Pediat Nephrol, Herestr 49, B-3000 Leuven, Belgium. [De Rechter, Stephanie; Mekahli, Djalila] Katholieke Univ Leuven, Dept Dev & Regenerat, PKD Res Grp, Leuven, Belgium. [Bockenhauer, Detlef] UCL Ctr Nephrol, London, England. [Bockenhauer, Detlef] Great Ormond St Hosp NHS Fdn Trust, London, England. [Guay-Woodford, Lisa M.] Childrens Natl Hlth Syst, Ctr Translat Sci, Washington, DC USA. [Liu, Isaac] Natl Univ Hlth Syst, Khoo Teck Puat Natl Univ, Childrens Med Inst, Singapore, Singapore. [Mallett, Andrew J.] Royal Brisbane & Womens Hosp, Kidney Hlth Serv, Brisbane, Qld, Australia. [Mallett, Andrew J.] Royal Brisbane & Womens Hosp, Conjoint Renal Res Lab, Brisbane, Qld, Australia. [Mallett, Andrew J.] Univ Queensland, Fac Med, Brisbane, Qld, Australia. [Mallett, Andrew J.] Univ Queensland, Inst Mol Biosci, Brisbane, Qld, Australia. [Mallett, Andrew J.] KidGen Collaborat & Australian Genom Hlth Allianc, Melbourne, Vic, Australia. [Soliman, Neveen A.] Cairo Univ, Ctr Pediat Nephrol & Transplantat, Kasr Al Ainy Sch Med, Dept Pediat, Cairo, Egypt. [Sylvestre, Lucimary C.] Hosp Pequeno Principe, Curitiba, Parana, Brazil. [Schaefer, Franz] Heidelberg Univ, Ctr Pediat & Adolescent Med, Div Pediat Nephrol, Med Ctr, Heidelberg, Germany. [Liebau, Max C.] Univ Hosp Cologne, Dept Pediat, Cologne, Germany. [Liebau, Max C.] Univ Hosp Cologne, Ctr Mol Med, Cologne, Germany. [Adamczyk, P.; Bjanid, O.; Brylka, A.; Morawiec-Knysak, A.; Szczepanska, M.] Dept Pediat, Zabrze, Poland. [Akinci, N.] Sariyer SISLI Hamidiye Etfal Res & Educ Hosp, Istanbul, Turkey. [Alpay, H.; Cicek, N.; Gokce, I] Marmara Univ, Sch Med, Div Pediat Nephrol, Istanbul, Turkey. [Ardelean, C.; Chirita, A.; Gafencu, M.; Stroescu, R.] Timisoara Children Hosp, Timisoara, Romania. [Ayasreh, N.; Furlano, M.; Torra, R.] Fundacio Puigvert, Barcelona, Spain. [Aydin, Z.; Bayrakci, U. S.] Ankara Univ Hlth Sci, Child Hlth & Dis, Ankara, Turkey. [Bael, A.; Docx, M.; Segers, N.] Koningin Paola Kinderziekenhuis Antwerpen, Antwerp, Belgium. [Baudouin, V; Cambier, A.; Couderc, A.; Dossier, C.; Kwon, V] Hop Robert Debre, AP HP, Paris, France. [Bensman, A.; Biebuyck, A.; Boyer, O.; Charbit, M.; Heidet, L.; Krid, S.; Krug, P.; Salomon, R.] Pediat Nephrol Necker Hosp, Paris, France. [Bialkevich, H.; Kazyra, I] 2nd City Childrens Clin Hosp, Natl Ctr Pediat Nephrol & RRT, Minsk, BELARUS. [Caliskan, S.; Ozcan, S.; Saygili, S. K.] Istanbul Cerrahpasa Fac Med, Istanbul, Turkey. [Camelio, A.; Nobili, F.; Vieux, R.] CHU Besancon, Besancon, France. [Carbone, V; Diomeda, F.; Torres, D.] Pediat Nephrol Unit Bari, Bari, Italy. [Chiodini, B.] HUDERF, Brussels, Belgium. [Collard, L.] CHR La Citadelle, Liege, Belgium. [Conceicao, M.; Teixeira, A.] Ctr Hosp Porto, Ctr Materno Infantil Norte, Porto, Portugal. [Constantinescu, I; Lungu, A. C.; Marin, A.; Negru, I; Stroescu, R.] Fundeni Clin Inst, Bucharest, Romania. [Crapella, B.; Giani, M.; Mastrangelo, A.; Montini, G.] Fdn IRCCS Ca Granda, Pediat Nephrol Dialysis & Transplant Unit, Milan, Italy. [Cvetkovic, M.; Gojkovic, I] Univ Childrens Hosp, Belgrade, Serbia. [Dima, B.] Clin Europe Hop St Elisabeth, Brussels, Belgium. [Dolan, N.] Our Ladys Childrens Hosp, Dublin, Ireland. [Drozdz, D.; Miklaszewska, M.; Zachwieja, K.] Jagiellonian Univ, Med Coll Cracow, Pediat Nephrol & Hypertens, Krakow, Poland. [Drube, J.; Pape, L.] Hannover Med Sch, Hannover, Germany. [Dunand, O.; Leroy, V] Pediat Nephrol Unit St Denis, St Denis, Reunion, France. [Dusan, P.; Spasojevic, B.; Stabouli, S.] Aristotle Univ Thessaloniki, Dept Pediat, Thessaloniki, Greece. [Eid, L. A.] Dubai Hosp, Pediat Nephrol Dept, Dubai, U Arab Emirates. [Emma, F.; Massella, L.] Bambino Gesu Pediat Hosp, Rome, Italy. [Espino Hernandez, M.] Hosp Infantil 12 Octubre Madrid, Madrid, Spain. [Fila, M.; Hemery, F.; Morin, D.] CHU Arnaud Villeneuve, Montpellier, France. [Ghuysen, Ms] CHU Liege, Liege, Belgium. [Giordano, M.] Pediat Nephrol Unit, Bari, Italy. [Girisgen, I; Yuksel, S.] Pamukkale Univ, Med Fac, Dept Pediat Nephrol, Denizli, Turkey. [Godefroid, N.; Ranguelov, N.] Clin Univ St Luc, Brussels, Belgium. [Godron-Dubrasquet, A.; Harambat, J.; Ilanas, B.] Bordeaux Univ Childrens Hosp, Bordeaux, France. [Gonzalez, E.] Childrens Univ Hosp, Geneva, Switzerland. [Groothoff, J. W.] Emma Childrens Hosp, Amsterdam, Netherlands. [Guarino, S.; La Manna, A.; Marzuillo, P.] Univ Campania Luigi Vanvitelli, Caserta, Italy. [Guffens, A.] CHC Clin Esperence, Montegnee, Belgium. [Hansen, P.] CHU Tivoli, La Louviere, Belgium. [Haumann, S.] Univ Klinikum Koln, Cologne, Germany. [He, G.] Foshan Women & Children Hosp, Foshan, Peoples R China. [Helmy, R.] Cairo Univ, Kasr Al Ainy Sch Med, Cairo, Egypt. [Hooman, N.; Otoukesh, H.] Iran Univ Med Sci, Aliasghar Clin Res Dev Unit, Tehran, Iran. [Janssens, P.] Univ Hosp Brussels, Brussels, Belgium. [Karamaria, S.; Prytula, A.; Raes, A.; Snauwaert, E.; Vande Walle, J.] UZ Gent, Ghent, Belgium. [Koenig, J.] Univ Hosp Muenster, Munster, Germany. [Litwin, M.; Obrycki, L.] Childrens Mem Hlth Inst, Warsaw, Poland. [Lombet, J.] CHR Citadelle, Liege, Belgium. [Longo, G.; Murer, L.] Hosp Univ Padova, Pediat Nephrol Dialysis & Transplant Unit, Padua, Italy. [Mallawaarachchi, A.] Garvan Inst, Darlinghurst, NSW, Australia. [Mallawaarachchi, A.] Royal Prince Alfred Hosp, Camperdown, NSW, Australia. [Mallawaarachchi, A.; McCarthy, H.; Quinlan, C.] KidGen, Sydney, NSW, Australia. [McCarthy, H.] Childrens Hosp Westmead, Westmead, NSW, Australia. [McCarthy, H.] Sydney Childrens Hosp, Sydney, NSW, Australia. [Papizh, S.; Prikhodina, L.] Pirogov Russian Nat Res Med Uni, Res & Clin Inst Pediat, Moscow, Russia. [Parvex, P.; Wilhelm-Bals, A.] Childrens Univ Hosp Geneva, Geneva, Switzerland. [Pawlak-Bratkowska, M.; Szczepanik, E.; Tkaczyk, M.] Polish Mothers Mem Hosp, Res Inst, Lodz, Poland. [Quinlan, C.] RCH Melbourne, Melbourne, Vic, Australia. [Ranchin, B.] Hop Femme Mere Enfant, Bron, France. [Ronit, C.] Ctr Hosp Luxembourg, Clin Pediat, Luxembourg, Luxembourg. [Schaefer, S.; Wuehl, E.] Ctr Pediat & Adolescent, Div Pediat Nephrol, Heidelberg, Germany. [Schreuder, M.] Radboudumc Amalia Childrens Hosp, Nijmegen, Netherlands. [Schurmans, T.; Tram, N.] CHU Charleroi, Charleroi, Belgium. [Seeman, T.] Charles Univ Prague, Prague, Czech Republic. [Seeman, T.] Motol Univ Hosp, Prague, Czech Republic. [Sinha, M.] Evelina London Childrens Hosp, London, England. [Taranta-Janusz, K.] Dept Pediat & Nephrol, Bialystok, Poland. [Thumfart, J.] Berlin Charite Univ Med, Berlin, Germany. [Utsch, B.] Herford Hosp, Dept Paediat, Herford, Germany. [Yildirim, Z. Y.] Istanbul Univ, Fac Med, Pediat Nephrol Dept, Istanbul, Turkey.

Published
2019

2. ADPedKD: A Global Online Platform on the Management of Children With ADPKD

Author

De Rechter, Stephanie, Bockenhauer, Detlef, Guay-Woodford, Lisa M., Liu, Isaac, Mallett, Andrew J., Soliman, Neveen A., Sylvestre, Lucimary C., Schaefer, Franz, Liebau, Max C., Mekahli, Djalila, Adamczyk, P., Akinci, N., Alpay, H., Ardelean, C., Ayasreh, N., Aydin, Z., Bael, A., Baudouin, V, Bayrakci, U. S., Bensman, A., Bialkevich, H., Biebuyck, A., Boyer, O., Bjanid, O., Brylka, A., Caliskan, S., Cambier, A., Camelio, A., Carbone, V, Charbit, M., Chiodini, B., Chirita, A., Cicek, N., Cerkauskiene, R., Collard, L., Conceicao, M., Constantinescu, I, Couderc, A., Crapella, B., Cvetkovic, M., Dima, B., Diomeda, F., Docx, M., Dolan, N., Dossier, C., Drozdz, D., Drube, J., Dunand, O., Dusan, P., Eid, L. A., Emma, F., Espino Hernandez, M., Fila, M., Furlano, M., Gafencu, M., Ghuysen, Ms, Giani, M., Giordano, M., Girisgen, I, Godefroid, N., Godron-Dubrasquet, A., Gojkovic, I, Gonzalez, E., Gokce, I, Groothoff, J. W., Guarino, S., Guffens, A., Hansen, P., Harambat, J., Haumann, S., He, G., Heidet, L., Helmy, R., Hemery, F., Hooman, N., Ilanas, B., Jankauskiene, A., Janssens, P., Karamaria, S., Kazyra, I, Koenig, J., Krid, S., Krug, P., Kwon, V, La Manna, A., Leroy, V, Litwin, M., Lombet, J., Longo, G., Lungu, A. C., Mallawaarachchi, A., Marin, A., Marzuillo, P., Massella, L., Mastrangelo, A., McCarthy, H., Miklaszewska, M., Moczulska, A., Montini, G., Morawiec-Knysak, A., Morin, D., Murer, L., Negru, I, Nobili, F., Obrycki, L., Otoukesh, H., Ozcan, S., Pape, L., Papizh, S., Parvex, P., Pawlak-Bratkowska, M., Prikhodina, L., Prytula, A., Quinlan, C., Raes, A., Ranchin, B., Ranguelov, N., Repeckiene, R., Ronit, C., Salomon, R., Santagelo, R., Saygili, S. K., Schaefer, S., Schreuder, M., Schurmans, T., Seeman, T., Segers, N., Sinha, M., Snauwaert, E., Spasojevic, B., Stabouli, S., Stoica, C., Stroescu, R., Szczepanik, E., Szczepanska, M., Taranta-Janusz, K., Teixeira, A., Thumfart, J., Tkaczyk, M., Torra, R., Torres, D., Tram, N., Utsch, B., Vande Walle, J., Vieux, R., Vitkevic, R., Wilhelm-Bals, A., Wuehl, E., Yildirim, Z. Y., Yuksel, S., Zachwieja, K., De Rechter, Stephanie, Bockenhauer, Detlef, Guay-Woodford, Lisa M., Liu, Isaac, Mallett, Andrew J., Soliman, Neveen A., Sylvestre, Lucimary C., Schaefer, Franz, Liebau, Max C., Mekahli, Djalila, Adamczyk, P., Akinci, N., Alpay, H., Ardelean, C., Ayasreh, N., Aydin, Z., Bael, A., Baudouin, V, Bayrakci, U. S., Bensman, A., Bialkevich, H., Biebuyck, A., Boyer, O., Bjanid, O., Brylka, A., Caliskan, S., Cambier, A., Camelio, A., Carbone, V, Charbit, M., Chiodini, B., Chirita, A., Cicek, N., Cerkauskiene, R., Collard, L., Conceicao, M., Constantinescu, I, Couderc, A., Crapella, B., Cvetkovic, M., Dima, B., Diomeda, F., Docx, M., Dolan, N., Dossier, C., Drozdz, D., Drube, J., Dunand, O., Dusan, P., Eid, L. A., Emma, F., Espino Hernandez, M., Fila, M., Furlano, M., Gafencu, M., Ghuysen, Ms, Giani, M., Giordano, M., Girisgen, I, Godefroid, N., Godron-Dubrasquet, A., Gojkovic, I, Gonzalez, E., Gokce, I, Groothoff, J. W., Guarino, S., Guffens, A., Hansen, P., Harambat, J., Haumann, S., He, G., Heidet, L., Helmy, R., Hemery, F., Hooman, N., Ilanas, B., Jankauskiene, A., Janssens, P., Karamaria, S., Kazyra, I, Koenig, J., Krid, S., Krug, P., Kwon, V, La Manna, A., Leroy, V, Litwin, M., Lombet, J., Longo, G., Lungu, A. C., Mallawaarachchi, A., Marin, A., Marzuillo, P., Massella, L., Mastrangelo, A., McCarthy, H., Miklaszewska, M., Moczulska, A., Montini, G., Morawiec-Knysak, A., Morin, D., Murer, L., Negru, I, Nobili, F., Obrycki, L., Otoukesh, H., Ozcan, S., Pape, L., Papizh, S., Parvex, P., Pawlak-Bratkowska, M., Prikhodina, L., Prytula, A., Quinlan, C., Raes, A., Ranchin, B., Ranguelov, N., Repeckiene, R., Ronit, C., Salomon, R., Santagelo, R., Saygili, S. K., Schaefer, S., Schreuder, M., Schurmans, T., Seeman, T., Segers, N., Sinha, M., Snauwaert, E., Spasojevic, B., Stabouli, S., Stoica, C., Stroescu, R., Szczepanik, E., Szczepanska, M., Taranta-Janusz, K., Teixeira, A., Thumfart, J., Tkaczyk, M., Torra, R., Torres, D., Tram, N., Utsch, B., Vande Walle, J., Vieux, R., Vitkevic, R., Wilhelm-Bals, A., Wuehl, E., Yildirim, Z. Y., Yuksel, S., and Zachwieja, K.

Abstract

Background: Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenic cause of renal failure. For several decades, ADPKD was regarded as an adult-onset disease. In the past decade, it has become more widely appreciated that the disease course begins in childhood. However, evidence-based guidelines on how to manage and approach children diagnosed with or at risk of ADPKD are lacking. Also, scoring systems to stratify patients into risk categories have been established only for adults. Overall, there are insufficient data on the clinical course during childhood. We therefore initiated the global ADPedKD project to establish a large international pediatric ADPKD cohort for deep characterization. Methods: Global ADPedKD is an international multicenter observational study focusing on childhood-diagnosed ADPKD. This collaborative project is based on interoperable Web-based databases, comprising 7 regional and independent but uniformly organized chapters, namely Africa, Asia, Australia, Europe, North America, South America, and the United Kingdom. In the database, a detailed basic data questionnaire, including genetics, is used in combination with data entry from follow-up visits, to provide both retrospective and prospective longitudinal data on clinical, radiologic, and laboratory findings, as well as therapeutic interventions. Discussion: The global ADPedKD initiative aims to characterize in detail the most extensive international pediatric ADPKD cohort reported to date, providing evidence for the development of unified diagnostic, follow-up, and treatment recommendations regarding modifiable disease factors. Moreover, this registry will serve as a platform for the development of clinical and/or biochemical markers predicting the risk of early and progressive disease.

Published
2019

3. ADPedKD: A Global Online Platform on the Management of Children With ADPKD

Author

De Rechter, S, Bockenhauer, D, Guay-Woodford, LM, Liu, I, Mallett, AJ, Soliman, NA, Sylvestre, LC, Schaefer, F, Liebau, MC, Mekahli, D, Adamczyk, P, Akinci, N, Alpay, H, Ardelean, C, Ayasreh, N, Aydin, Z, Bael, A, Baudouin, V, Bayrakci, US, Bensman, A, Bialkevich, H, Biebuyck, A, Boyer, O, Bjanid, O, Brylka, A, Caliskan, S, Cambier, A, Camelio, A, Carbone, V, Charbit, M, Chiodini, B, Chirita, A, Cicek, N, Cerkauskiene, R, Collard, L, Conceicao, M, Constantinescu, I, Couderc, A, Crapella, B, Cvetkovic, M, Dima, B, Diomeda, F, Docx, M, Dolan, N, Dossier, C, Drozdz, D, Drube, J, Dunand, O, Dusan, P, Eid, LA, Emma, F, Espino Hernandez, M, Fila, M, Furlano, M, Gafencu, M, Ghuysen, M, Giani, M, Giordano, M, Girisgen, I, Godefroid, N, Godron-Dubrasquet, A, Gojkovic, I, Gonzalez, E, Gokce, I, Groothoff, JW, Guarino, S, Guffens, A, Hansen, P, Harambat, J, Haumann, S, He, G, Heidet, L, Helmy, R, Hemery, F, Hooman, N, Ilanas, B, Jankauskiene, A, Janssens, P, Karamaria, S, Kazyra, I, Koenig, J, Krid, S, Krug, P, Kwon, V, La Manna, A, Leroy, V, Litwin, M, Lombet, J, Longo, G, Lungu, AC, Mallawaarachchi, A, Marin, A, Marzuillo, P, Massella, L, Mastrangelo, A, McCarthy, H, Miklaszewska, M, Moczulska, A, Montini, G, Morawiec-Knysak, A, Morin, D, Murer, L, Negru, I, Nobili, F, Obrycki, L, Otoukesh, H, Ozcan, S, Pape, L, Papizh, S, Parvex, P, Pawlak-Bratkowska, M, Prikhodina, L, Prytula, A, Quinlan, C, Raes, A, Ranchin, B, Ranguelov, N, Repeckiene, R, Ronit, C, Salomon, R, Santagelo, R, Saygili, SK, Schaefer, S, Schreuder, M, Schurmans, T, Seeman, T, Segers, N, Sinha, M, Snauwaert, E, Spasojevic, B, Stabouli, S, Stoica, C, Stroescu, R, Szczepanik, E, Szczepanska, M, Taranta-Janusz, K, Teixeira, A, Thumfart, J, Tkaczyk, M, Torra, R, Torres, D, Tram, N, Utsch, B, Vande Walle, J, Vieux, R, Vitkevic, R, Wilhelm-Bals, A, Wuehl, E, Yildirim, ZY, Yuksel, S, Zachwieja, K, De Rechter, S, Bockenhauer, D, Guay-Woodford, LM, Liu, I, Mallett, AJ, Soliman, NA, Sylvestre, LC, Schaefer, F, Liebau, MC, Mekahli, D, Adamczyk, P, Akinci, N, Alpay, H, Ardelean, C, Ayasreh, N, Aydin, Z, Bael, A, Baudouin, V, Bayrakci, US, Bensman, A, Bialkevich, H, Biebuyck, A, Boyer, O, Bjanid, O, Brylka, A, Caliskan, S, Cambier, A, Camelio, A, Carbone, V, Charbit, M, Chiodini, B, Chirita, A, Cicek, N, Cerkauskiene, R, Collard, L, Conceicao, M, Constantinescu, I, Couderc, A, Crapella, B, Cvetkovic, M, Dima, B, Diomeda, F, Docx, M, Dolan, N, Dossier, C, Drozdz, D, Drube, J, Dunand, O, Dusan, P, Eid, LA, Emma, F, Espino Hernandez, M, Fila, M, Furlano, M, Gafencu, M, Ghuysen, M, Giani, M, Giordano, M, Girisgen, I, Godefroid, N, Godron-Dubrasquet, A, Gojkovic, I, Gonzalez, E, Gokce, I, Groothoff, JW, Guarino, S, Guffens, A, Hansen, P, Harambat, J, Haumann, S, He, G, Heidet, L, Helmy, R, Hemery, F, Hooman, N, Ilanas, B, Jankauskiene, A, Janssens, P, Karamaria, S, Kazyra, I, Koenig, J, Krid, S, Krug, P, Kwon, V, La Manna, A, Leroy, V, Litwin, M, Lombet, J, Longo, G, Lungu, AC, Mallawaarachchi, A, Marin, A, Marzuillo, P, Massella, L, Mastrangelo, A, McCarthy, H, Miklaszewska, M, Moczulska, A, Montini, G, Morawiec-Knysak, A, Morin, D, Murer, L, Negru, I, Nobili, F, Obrycki, L, Otoukesh, H, Ozcan, S, Pape, L, Papizh, S, Parvex, P, Pawlak-Bratkowska, M, Prikhodina, L, Prytula, A, Quinlan, C, Raes, A, Ranchin, B, Ranguelov, N, Repeckiene, R, Ronit, C, Salomon, R, Santagelo, R, Saygili, SK, Schaefer, S, Schreuder, M, Schurmans, T, Seeman, T, Segers, N, Sinha, M, Snauwaert, E, Spasojevic, B, Stabouli, S, Stoica, C, Stroescu, R, Szczepanik, E, Szczepanska, M, Taranta-Janusz, K, Teixeira, A, Thumfart, J, Tkaczyk, M, Torra, R, Torres, D, Tram, N, Utsch, B, Vande Walle, J, Vieux, R, Vitkevic, R, Wilhelm-Bals, A, Wuehl, E, Yildirim, ZY, Yuksel, S, and Zachwieja, K

Abstract

BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenic cause of renal failure. For several decades, ADPKD was regarded as an adult-onset disease. In the past decade, it has become more widely appreciated that the disease course begins in childhood. However, evidence-based guidelines on how to manage and approach children diagnosed with or at risk of ADPKD are lacking. Also, scoring systems to stratify patients into risk categories have been established only for adults. Overall, there are insufficient data on the clinical course during childhood. We therefore initiated the global ADPedKD project to establish a large international pediatric ADPKD cohort for deep characterization. METHODS: Global ADPedKD is an international multicenter observational study focusing on childhood-diagnosed ADPKD. This collaborative project is based on interoperable Web-based databases, comprising 7 regional and independent but uniformly organized chapters, namely Africa, Asia, Australia, Europe, North America, South America, and the United Kingdom. In the database, a detailed basic data questionnaire, including genetics, is used in combination with data entry from follow-up visits, to provide both retrospective and prospective longitudinal data on clinical, radiologic, and laboratory findings, as well as therapeutic interventions. DISCUSSION: The global ADPedKD initiative aims to characterize in detail the most extensive international pediatric ADPKD cohort reported to date, providing evidence for the development of unified diagnostic, follow-up, and treatment recommendations regarding modifiable disease factors. Moreover, this registry will serve as a platform for the development of clinical and/or biochemical markers predicting the risk of early and progressive disease.

Published
2019

4. ADPedKD: A Global Online Platform on the Management of Children With ADPKD

Author

De Rechter, Stéphanie, primary, Bockenhauer, Detlef, additional, Guay-Woodford, Lisa M., additional, Liu, Isaac, additional, Mallett, Andrew J., additional, Soliman, Neveen A., additional, Sylvestre, Lucimary C., additional, Schaefer, Franz, additional, Liebau, Max C., additional, Mekahli, Djalila, additional, Adamczyk, P., additional, Akinci, N., additional, Alpay, H., additional, Ardelean, C., additional, Ayasreh, N., additional, Aydin, Z., additional, Bael, A., additional, Baudouin, V., additional, Bayrakci, U.S., additional, Bensman, A., additional, Bialkevich, H., additional, Biebuyck, A., additional, Boyer, O., additional, Bjanid, O., additional, Bryłka, A., additional, Çalışkan, S., additional, Cambier, A., additional, Camelio, A., additional, Carbone, V., additional, Charbit, M., additional, Chiodini, B., additional, Chirita, A., additional, Çiçek, N., additional, Cerkauskiene, R., additional, Collard, L., additional, Conceiçao, M., additional, Constantinescu, I., additional, Couderc, A., additional, Crapella, B., additional, Cvetkovic, M., additional, Dima, B., additional, Diomeda, F., additional, Docx, M., additional, Dolan, N., additional, Dossier, C., additional, Drozdz, D., additional, Drube, J., additional, Dunand, O., additional, Dusan, P., additional, Eid, L.A., additional, Emma, F., additional, Espino Hernandez, M., additional, Fila, M., additional, Furlano, M., additional, Gafencu, M., additional, Ghuysen, M.S., additional, Giani, M., additional, Giordano, M., additional, Girisgen, I., additional, Godefroid, N., additional, Godron-Dubrasquet, A., additional, Gojkovic, I., additional, Gonzalez, E., additional, Gökçe, I., additional, Groothoff, J.W., additional, Guarino, S., additional, Guffens, A., additional, Hansen, P., additional, Harambat, J., additional, Haumann, S., additional, He, G., additional, Heidet, L., additional, Helmy, R., additional, Hemery, F., additional, Hooman, N., additional, llanas, B., additional, Jankauskiene, A., additional, Janssens, P., additional, Karamaria, S., additional, Kazyra, I., additional, Koenig, J., additional, Krid, S., additional, Krug, P., additional, Kwon, V., additional, La Manna, A., additional, Leroy, V., additional, Litwin, M., additional, Lombet, J., additional, Longo, G., additional, Lungu, A.C., additional, Mallawaarachchi, A., additional, Marin, A., additional, Marzuillo, P., additional, Massella, L., additional, Mastrangelo, A., additional, McCarthy, H., additional, Miklaszewska, M., additional, Moczulska, A., additional, Montini, G., additional, Morawiec-Knysak, A., additional, Morin, D., additional, Murer, L., additional, Negru, I., additional, Nobili, F., additional, Obrycki, L., additional, Otoukesh, H., additional, Özcan, S., additional, Pape, L., additional, Papizh, S., additional, Parvex, P., additional, Pawlak-Bratkowska, M., additional, Prikhodina, L., additional, Prytula, A., additional, Quinlan, C., additional, Raes, A., additional, Ranchin, B., additional, Ranguelov, N., additional, Repeckiene, R., additional, Ronit, C., additional, Salomon, R., additional, Santagelo, R., additional, Saygılı, S.K., additional, Schaefer, S., additional, Schreuder, M., additional, Schurmans, T., additional, Seeman, T., additional, Segers, N., additional, Sinha, M., additional, Snauwaert, E., additional, Spasojevic, B., additional, Stabouli, S., additional, Stoica, C., additional, Stroescu, R., additional, Szczepanik, E., additional, Szczepańska, M., additional, Taranta-Janusz, K., additional, Teixeira, A., additional, Thumfart, J., additional, Tkaczyk, M., additional, Torra, R., additional, Torres, D., additional, Tram, N., additional, Utsch, B., additional, Vande Walle, J., additional, Vieux, R., additional, Vitkevic, R., additional, Wilhelm-Bals, A., additional, Wühl, E., additional, Yildirim, Z.Y., additional, Yüksel, S., additional, and Zachwieja, K., additional

Published
2019
Full Text
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5. Pitfalls of ketogenic diet in a neonate

Author

Goyens, P., De Laet, C., Ranguelov, N., Ferreiro, C., Robert, M., and Dan, B.

Abstract

To the Editor.-- Despite the exponential development of pharmacological agents, ketogenic diet is increasingly used in infants in a number of indications ranging from seizure disorder (1) to selected metabolic [...]

Published
2002

6. Policy variation in donor and recipient status in 11 pediatric renal transplantation centers.

Author

Huis, M. van, Schoenmaker, N.J., Groothoff, J.W., Lee, J.H. van der, Cransberg, K., Bouts, A.H.M., Collard, L., Dyck, M. van, Godefroid, N., Hoeck, K. van, Taylan, C., Koster-Kamphuis, L., Lilien, M.R., Raes, A., Ranguelov, N., Huis, M. van, Schoenmaker, N.J., Groothoff, J.W., Lee, J.H. van der, Cransberg, K., Bouts, A.H.M., Collard, L., Dyck, M. van, Godefroid, N., Hoeck, K. van, Taylan, C., Koster-Kamphuis, L., Lilien, M.R., Raes, A., and Ranguelov, N.

Abstract

01 juni 2013, Item does not contain fulltext, BACKGROUND: Evidence-based guidelines for pediatric renal transplantation (Tx) are lacking. This may lead to unwanted treatment variations. We aimed to quantify the variation in treatment policies and its consequences in daily practice in 11 centers that provide renal Tx for children in three European countries. METHODS: We surveyed Tx policies in all ten centers in the Netherlands and Belgium and one center in Germany. We compared Tx policies with the therapies actually provided and with recommendations from available published guidelines and existing literature. Information on treatment policies was obtained by a questionnaire; information on care actually provided was registered prospectively from 2007 to 2011. The clinical guidelines were identified by searches of MEDLINE and websites of pediatric nephrology organizations. RESULTS: Between centers, we found discrepancies in policies on: the minimum accepted recipient weight (8-12 kg), the maximum living and deceased donor age (50-75 and 45-60 years, respectively). HLA-match policies varied between acceptation of all mismatches to at least 1A1B1DR match donor transplantations amounting to 49 % in the Netherlands versus 26 % in Belgium (p = 0.006). CONCLUSIONS: Management policies for renal Tx in children vary considerably between centers and nations. This has a direct impact on the delivered care, and by extrapolation, on health outcome.

Published
2013

7. Fewer pre-emptive renal transplantations and more rejections in immigrant children compared to native Dutch and Belgian children.

Author

Tromp, W.F., Cransberg, K., Lee, J.H., Bouts, A.H.M., Collard, L., Damme-Lombaerts, R. van, Godefroid, N., Hoeck, K.J. Van, Koster-Kamphuis, L., Lilien, M.R., Raes, A., Ranguelov, N., Groothoff, J.W., Tromp, W.F., Cransberg, K., Lee, J.H., Bouts, A.H.M., Collard, L., Damme-Lombaerts, R. van, Godefroid, N., Hoeck, K.J. Van, Koster-Kamphuis, L., Lilien, M.R., Raes, A., Ranguelov, N., and Groothoff, J.W.

Abstract

01 juni 2012, Item does not contain fulltext, BACKGROUND: In the Netherlands and Belgium, an increasing number of children who have end-stage renal disease (ESRD) are of non-Western origin. We analysed renal transplantation practices and outcome for immigrant ESRD children as compared to native children in both countries. METHODS: All Dutch and Belgian children aged <19 years who received their first renal transplantation between 1 September 2007 and 1 January 2011 were included. Therapy characteristics and outcomes were registered prospectively on a 3-monthly basis. Immigrants were defined as children of whom one or both parents had been born outside Western European countries. Multivariable Cox regression analysis was used to quantify the hazard ratio for acute rejection. RESULTS: One hundred and nineteen first renal transplant recipients were included, of which 41 (34%) were immigrants. Median [range] follow-up time of transplantation was 18 [2-28] months. Compared to native children, immigrants had pre-emptive transplantations (15 versus 32%, P = 0.040) and transplantations with a kidney from a living donor less often (24 versus 59%, P < 0.001). Survival analysis in 96 children with at least 3 months of follow-up showed an increased risk for acute rejection in immigrants adjusted for donor source, duration of dialysis and number of HLA mismatches on the DR locus [hazard ratio (95% confidence interval) 2.5 (1.1-5.9)]. CONCLUSIONS: Immigrant children receive fewer pre-emptive and living donor transplantations compared to native children. After transplantation, immigrant children are at higher risk for acute rejection irrespective of the mode of transplantation.

Published
2012

8. Un cas inhabituel de duplication du canal rachidien.

Author

Ranguelov, N, Sourtzis, Stavroula, Delpierre, Isabelle, Christophe, Catherine, Louryan, Stéphane, Ranguelov, N, Sourtzis, Stavroula, Delpierre, Isabelle, Christophe, Catherine, and Louryan, Stéphane

Abstract

We describe here a very rare congenital malformation, in which the vertebra Th 9 to 11 were divided into independent bodies and neural arches. The vertebral canal contained the spinal cord, whereas the space between bodies and arches was filled by nerve roots and a central remnant cord, not clearly connected to the main spinal cord. This malformation was considered as related to a fetal alcohol syndrome, with craniofacial and genitourinary abnormalities. The authors analyze, moreover the possible role of abnormal Sonic Hedgehog gene patterning in the pathogeny of this complex malformative sequence., Case Reports, English Abstract, Journal Article, info:eu-repo/semantics/published

Published
2007

9. Fewer pre-emptive renal transplantations and more rejections in immigrant children compared to native Dutch and Belgian children

Author

Tromp, W. F., primary, Cransberg, K., additional, van der Lee, J. H., additional, Bouts, A. H., additional, Collard, L., additional, Van Damme-Lombaerts, R., additional, Godefroid, N., additional, Van Hoeck, K. J., additional, Koster-Kamphuis, L., additional, Lilien, M. R., additional, Raes, A., additional, Ranguelov, N., additional, and Groothoff, J. W., additional

Published
2012
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10. Pitfalls of ketogenic diet in a neonate [4] (multiple letters)

Author

Goyens, Philippe, De Laet, Corinne, Ranguelov, N, Ferreiro, Christine, Robert, Michaël, Dan, Bernard, Nordli, Douglas R., De Vivo, Darryl C., Goyens, Philippe, De Laet, Corinne, Ranguelov, N, Ferreiro, Christine, Robert, Michaël, Dan, Bernard, Nordli, Douglas R., and De Vivo, Darryl C.

Abstract

SCOPUS: le.j, info:eu-repo/semantics/published

Published
2002

11. Pitfalls of ketogenic diet in a neonate.

Author

Goyens, Philippe, De Laet, C, Ranguelov, N, Ferreiro, Christine, Robert, Michaël, Dan, Bernard, Goyens, Philippe, De Laet, C, Ranguelov, N, Ferreiro, Christine, Robert, Michaël, and Dan, Bernard

Abstract

Case Reports, Comment, Letter, info:eu-repo/semantics/published

Published
2002

12. Pitfall of ketogenic diet in neonatal De Vivo disease (GLUT-1 deficiency)

Author

Goyens, Philippe, Ranguelov, N, Ferreiro, Christine, Klepper, Joerg, Abramowicz, Marc, Vamos, Eszter, Robert, Michaël, Brasseur, D, Dan, Bernard, Goyens, Philippe, Ranguelov, N, Ferreiro, Christine, Klepper, Joerg, Abramowicz, Marc, Vamos, Eszter, Robert, Michaël, Brasseur, D, and Dan, Bernard

Abstract

info:eu-repo/semantics/published

Published
1999

16. Initial screening for bedwetting : the use of questionnaires and voiding diaries : first results from a National Belgian study

Author

Sevasti Karamaria, Ranguelov, N., Hansen, Pernille, Boe, Veerle, Verleyen, Pieter, Vande Walle, Lien Dossche, and Bael, An

Subjects
punc, enuresis, questionnaire, screening, Medicine and Health Sciences, Frederik Paulsen chair, NMNE, safepedrug, diary, Children, nocturnal enuresis, Clinical management tool, MNE
Abstract

Title Initial screening for bedwetting: the use of questionnaires and voiding diaries. First results from a National Belgian study Authors S. Karamaria2, N. Ranguelov3, P. Hansen4, V. De Boe5, P. Verleyen6, J. Vande Walle1,2, L. Dossche2, A. Bael7,8 1Department of Pediatric Nephrology, UZ Gent, Ghent, 2Ghent University, 3Department of Pediatrics, Cliniques Universitaires St-Luc, Université Catholique de Louvain, Brussels, 4Department of Pediatrics, CHU Tivoli, La Louvière, 5Department of Urology, UZ Brussel, Brussels, 6Department of Urology, AZ Groeninge, Kortrijk, 7Department of Pediatrics, Pediatric Nephrology, ZNA Koningin Paola Kinderziekenhuis, Antwerp; 8Faculty of Medicine, University of Antwerp, Antwerp Background International guidelines have a consensus that stratification of nocturnal enuresis (NE) into non-monosymptomatic (NMNE) and monosymptomatic (MNE) is mandatory at intake to optimize therapeutic approach. This stratification is based on clinical parameters (presence or absence of Lower Urinary Tract Symptoms (LUTS) respectively). To identify clinical parameters a checklist (Clinical Management Tool (CMT)) and/or voiding diaries based on home recordings can be used. However, these recordings can be time consuming and difficult for the family. Moreover, the added value to the CMT, especially in treatment naïve patients, is rather expert opinion than evidence based. Methods The aim of this study run in 7 Belgian Hospitals, was to document in treatment naïve NE patients >5 years: 1) The prevalence of MNE vs NMNE 2) the added value and correlation of CMT and/or diary in differentiating NE. Two study visits were scheduled: At visit 1 CMT was obtained, after a thorough medical history and basic assessments. If daytime incontinence and/or LUTS were identified, the diagnosis was NMNE. After the 1st study visit, a 2day voiding diary (fluid intake, voiding volumes, incontinence) was registered at home. During the second study visit, this diary was evaluated; if the micturition frequency was >8 or 8 voidings/day) between what the parents answered on the CMT and what they registered in the diary (κ=-0,057). Conclusion NMNE is more frequent than MNE in treatment naïve patients. CMT alone versus CMT + diary had a different sensitivity and specificity of identifying LUTS : in absence of validation of the importance by a therapeutic trial outcome, we state that we can only consider patients as MNE when and CMT and diary do not demonstrate LUTS.

17. ADPedKD : a global online platform on the management of children with ADPKD

Author

Stéphanie De Rechter, Detlef Bockenhauer, Lisa M. Guay-Woodford, Isaac Liu, Andrew J. Mallett, Neveen A. Soliman, Lucimary C. Sylvestre, Franz Schaefer, Max C. Liebau, Djalila Mekahli, P. Adamczyk, N. Akinci, H. Alpay, C. Ardelean, N. Ayasreh, Z. Aydin, A. Bael, V. Baudouin, U.S. Bayrakci, A. Bensman, H. Bialkevich, A. Biebuyck, O. Boyer, O. Bjanid, A. Bryłka, S. Çalışkan, A. Cambier, A. Camelio, V. Carbone, M. Charbit, B. Chiodini, A. Chirita, N. Çiçek, R. Cerkauskiene, L. Collard, M. Conceiçao, I. Constantinescu, A. Couderc, B. Crapella, M. Cvetkovic, B. Dima, F. Diomeda, M. Docx, N. Dolan, C. Dossier, D. Drozdz, J. Drube, O. Dunand, P. Dusan, L.A. Eid, F. Emma, M. Espino Hernandez, M. Fila, M. Furlano, M. Gafencu, M.S. Ghuysen, M. Giani, M. Giordano, I. Girisgen, N. Godefroid, A. Godron-Dubrasquet, I. Gojkovic, E. Gonzalez, I. Gökçe, J.W. Groothoff, S. Guarino, A. Guffens, P. Hansen, J. Harambat, S. Haumann, G. He, L. Heidet, R. Helmy, F. Hemery, N. Hooman, B. llanas, A. Jankauskiene, P. Janssens, S. Karamaria, I. Kazyra, J. Koenig, S. Krid, P. Krug, V. Kwon, A. La Manna, V. Leroy, M. Litwin, J. Lombet, G. Longo, A.C. Lungu, A. Mallawaarachchi, A. Marin, P. Marzuillo, L. Massella, A. Mastrangelo, H. McCarthy, M. Miklaszewska, A. Moczulska, G. Montini, A. Morawiec-Knysak, D. Morin, L. Murer, I. Negru, F. Nobili, L. Obrycki, H. Otoukesh, S. Özcan, L. Pape, S. Papizh, P. Parvex, M. Pawlak-Bratkowska, L. Prikhodina, A. Prytula, C. Quinlan, A. Raes, B. Ranchin, N. Ranguelov, R. Repeckiene, C. Ronit, R. Salomon, R. Santagelo, S.K. Saygılı, S. Schaefer, M. Schreuder, T. Schurmans, T. Seeman, N. Segers, M. Sinha, E. Snauwaert, B. Spasojevic, S. Stabouli, C. Stoica, R. Stroescu, E. Szczepanik, M. Szczepańska, K. Taranta-Janusz, A. Teixeira, J. Thumfart, M. Tkaczyk, R. Torra, D. Torres, N. Tram, B. Utsch, J. Vande Walle, R. Vieux, R. Vitkevic, A. Wilhelm-Bals, E. Wühl, Z.Y. Yildirim, S. Yüksel, K. Zachwieja, Clinical sciences, Faculty of Medicine and Pharmacy, Internal Medicine Specializations, Nephrology, İÜC, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, ARD - Amsterdam Reproduction and Development, Paediatric Nephrology, AGEM - Inborn errors of metabolism, APH - Quality of Care, APH - Methodology, De Rechter, S., Bockenhauer, D., Guay-Woodford, L. M., Liu, I., Mallett, A. J., Soliman, N. A., Sylvestre, L. C., Schaefer, F., Liebau, M. C., Mekahli, D., Adamczyk, P., Akinci, N., Alpay, H., Ardelean, C., Ayasreh, N., Aydin, Z., Bael, A., Baudouin, V., Bayrakci, U. S., Bensman, A., Bialkevich, H., Biebuyck, A., Boyer, O., Bjanid, O., Brylka, A., Caliskan, S., Cambier, A., Camelio, A., Carbone, V., Charbit, M., Chiodini, B., Chirita, A., Cicek, N., Cerkauskiene, R., Collard, L., Conceicao, M., Constantinescu, I., Couderc, A., Crapella, B., Cvetkovic, M., Dima, B., Diomeda, F., Docx, M., Dolan, N., Dossier, C., Drozdz, D., Drube, J., Dunand, O., Dusan, P., Eid, L. A., Emma, F., Espino Hernandez, M., Fila, M., Furlano, M., Gafencu, M., Ghuysen, M. S., Giani, M., Giordano, M., Girisgen, I., Godefroid, N., Godron-Dubrasquet, A., Gojkovic, I., Gonzalez, E., Gokce, I., Groothoff, J. W., Guarino, S., Guffens, A., Hansen, P., Harambat, J., Haumann, S., He, G., Heidet, L., Helmy, R., Hemery, F., Hooman, N., Llanas, B., Jankauskiene, A., Janssens, P., Karamaria, S., Kazyra, I., Koenig, J., Krid, S., Krug, P., Kwon, V., La Manna, A., Leroy, V., Litwin, M., Lombet, J., Longo, G., Lungu, A. C., Mallawaarachchi, A., Marin, A., Marzuillo, P., Massella, L., Mastrangelo, A., Mccarthy, H., Miklaszewska, M., Moczulska, A., Montini, G., Morawiec-Knysak, A., Morin, D., Murer, L., Negru, I., Nobili, F., Obrycki, L., Otoukesh, H., Ozcan, S., Pape, L., Papizh, S., Parvex, P., Pawlak-Bratkowska, M., Prikhodina, L., Prytula, A., Quinlan, C., Raes, A., Ranchin, B., Ranguelov, N., Repeckiene, R., Ronit, C., Salomon, R., Santagelo, R., Saygili, S. K., Schaefer, S., Schreuder, M., Schurmans, T., Seeman, T., Segers, N., Sinha, M., Snauwaert, E., Spasojevic, B., Stabouli, S., Stoica, C., Stroescu, R., Szczepanik, E., Szczepanska, M., Taranta-Janusz, K., Teixeira, A., Thumfart, J., Tkaczyk, M., Torra, R., Torres, D., Tram, N., Utsch, B., Vande Walle, J., Vieux, R., Vitkevic, R., Wilhelm-Bals, A., Wuhl, E., Yildirim, Z. Y., Yuksel, S., Zachwieja, K., UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - (SLuc) Service de pédiatrie générale, Parvex, Paloma Maria, Gonzalez, Elsa, Wilhelm-Bals, Alexandra, Amsterdam Reproduction & Development (AR&D), De Rechter, Stephanie, Bockenhauer, Detlef, Guay-Woodford, Lisa M., Liu, Isaac, Mallett, Andrew J., Soliman, Neveen A., Sylvestre, Lucimary C., Schaefer, Franz, Liebau, Max C., Mekahli, Djalila, Baudouin, V, Carbone, V, Constantinescu, I, Ghuysen, Ms, Girisgen, I, Gojkovic, I, Gokce, I, Ilanas, B., Kazyra, I, Kwon, V, Leroy, V, McCarthy, H., Negru, I, and Wuehl, E.

Subjects
medicine.medical_specialty, ADPKD, ADPedKD Registry, children, longitudinal, 030232 urology & nephrology, Autosomal dominant polycystic kidney disease, Psychological intervention, CHILDHOOD, BLOOD-PRESSURE, PROGRESSION, Disease, 030204 cardiovascular system & hematology, urologic and male genital diseases, lcsh:RC870-923, Disease course, CARDIOVASCULAR-ABNORMALITIES, 03 medical and health sciences, 0302 clinical medicine, Clinical Research, LEFT-VENTRICULAR MASS, Medicine and Health Sciences, Medicine, Children, DISEASE ADPKD, DOMINANT POLYCYSTIC KIDNEY, SPECTRUM, Science & Technology, ddc:618, business.industry, urogenital system, Urology & Nephrology, medicine.disease, lcsh:Diseases of the genitourinary system. Urology, female genital diseases and pregnancy complications, 3. Good health, Disease factors, Nephrology, Family medicine, Cohort, RENAL CONCENTRATING CAPACITY, VOLUME, Observational study, business, Life Sciences & Biomedicine, Progressive disease
Abstract

Background: Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenic cause of renal failure. For several decades, ADPKD was regarded as an adult-onset disease. In the past decade, it has become more widely appreciated that the disease course begins in childhood. However, evidence-based guidelines on how to manage and approach children diagnosed with or at risk of ADPKD are lacking. Also, scoring systems to stratify patients into risk categories have been established only for adults. Overall, there are insufficient data on the clinical course during childhood. We therefore initiated the global ADPedKD project to establish a large international pediatric ADPKD cohort for deep characterization., Methods: Global ADPedKD is an international multicenter observational study focusing on childhood-diagnosed ADPKD. This collaborative project is based on interoperable Web-based databases, comprising 7 regional and independent but uniformly organized chapters, namely Africa, Asia, Australia, Europe, North America, South America, and the United Kingdom. In the database, a detailed basic data questionnaire, including genetics, is used in combination with data entry from follow-up visits, to provide both retrospective and prospective longitudinal data on clinical, radiologic, and laboratory findings, as well as therapeutic interventions., Discussion: The global ADPedKD initiative aims to characterize in detail the most extensive international pediatric ADPKD cohort reported to date, providing evidence for the development of unified diagnostic, follow-up, and treatment recommendations regarding modifiable disease factors. Moreover, this registry will serve as a platform for the development of clinical and/or biochemical markers predicting the risk of early and progressive disease., C1 [De Rechter, Stephanie; Mekahli, Djalila] Univ Hosp Leuven, Dept Pediat Nephrol, Herestr 49, B-3000 Leuven, Belgium., [De Rechter, Stephanie; Mekahli, Djalila] Katholieke Univ Leuven, Dept Dev & Regenerat, PKD Res Grp, Leuven, Belgium., [Bockenhauer, Detlef] UCL Ctr Nephrol, London, England., [Bockenhauer, Detlef] Great Ormond St Hosp NHS Fdn Trust, London, England., [Guay-Woodford, Lisa M.] Childrens Natl Hlth Syst, Ctr Translat Sci, Washington, DC USA., [Liu, Isaac] Natl Univ Hlth Syst, Khoo Teck Puat Natl Univ, Childrens Med Inst, Singapore, Singapore., [Mallett, Andrew J.] Royal Brisbane & Womens Hosp, Kidney Hlth Serv, Brisbane, Qld, Australia., [Mallett, Andrew J.] Royal Brisbane & Womens Hosp, Conjoint Renal Res Lab, Brisbane, Qld, Australia., [Mallett, Andrew J.] Univ Queensland, Fac Med, Brisbane, Qld, Australia., [Mallett, Andrew J.] Univ Queensland, Inst Mol Biosci, Brisbane, Qld, Australia., [Mallett, Andrew J.] KidGen Collaborat & Australian Genom Hlth Allianc, Melbourne, Vic, Australia., [Soliman, Neveen A.] Cairo Univ, Ctr Pediat Nephrol & Transplantat, Kasr Al Ainy Sch Med, Dept Pediat, Cairo, Egypt., [Sylvestre, Lucimary C.] Hosp Pequeno Principe, Curitiba, Parana, Brazil., [Schaefer, Franz] Heidelberg Univ, Ctr Pediat & Adolescent Med, Div Pediat Nephrol, Med Ctr, Heidelberg, Germany., [Liebau, Max C.] Univ Hosp Cologne, Dept Pediat, Cologne, Germany., [Liebau, Max C.] Univ Hosp Cologne, Ctr Mol Med, Cologne, Germany., [Adamczyk, P.; Bjanid, O.; Brylka, A.; Morawiec-Knysak, A.; Szczepanska, M.] Dept Pediat, Zabrze, Poland., [Akinci, N.] Sariyer SISLI Hamidiye Etfal Res & Educ Hosp, Istanbul, Turkey., [Alpay, H.; Cicek, N.; Gokce, I] Marmara Univ, Sch Med, Div Pediat Nephrol, Istanbul, Turkey., [Ardelean, C.; Chirita, A.; Gafencu, M.; Stroescu, R.] Timisoara Children Hosp, Timisoara, Romania., [Ayasreh, N.; Furlano, M.; Torra, R.] Fundacio Puigvert, Barcelona, Spain., [Aydin, Z.; Bayrakci, U. S.] Ankara Univ Hlth Sci, Child Hlth & Dis, Ankara, Turkey., [Bael, A.; Docx, M.; Segers, N.] Koningin Paola Kinderziekenhuis Antwerpen, Antwerp, Belgium., [Baudouin, V; Cambier, A.; Couderc, A.; Dossier, C.; Kwon, V] Hop Robert Debre, AP HP, Paris, France., [Bensman, A.; Biebuyck, A.; Boyer, O.; Charbit, M.; Heidet, L.; Krid, S.; Krug, P.; Salomon, R.] Pediat Nephrol Necker Hosp, Paris, France., [Bialkevich, H.; Kazyra, I] 2nd City Childrens Clin Hosp, Natl Ctr Pediat Nephrol & RRT, Minsk, BELARUS., [Caliskan, S.; Ozcan, S.; Saygili, S. K.] Istanbul Cerrahpasa Fac Med, Istanbul, Turkey., [Camelio, A.; Nobili, F.; Vieux, R.] CHU Besancon, Besancon, France., [Carbone, V; Diomeda, F.; Torres, D.] Pediat Nephrol Unit Bari, Bari, Italy., [Chiodini, B.] HUDERF, Brussels, Belgium., [Collard, L.] CHR La Citadelle, Liege, Belgium., [Conceicao, M.; Teixeira, A.] Ctr Hosp Porto, Ctr Materno Infantil Norte, Porto, Portugal., [Constantinescu, I; Lungu, A. C.; Marin, A.; Negru, I; Stroescu, R.] Fundeni Clin Inst, Bucharest, Romania., [Crapella, B.; Giani, M.; Mastrangelo, A.; Montini, G.] Fdn IRCCS Ca Granda, Pediat Nephrol Dialysis & Transplant Unit, Milan, Italy., [Cvetkovic, M.; Gojkovic, I] Univ Childrens Hosp, Belgrade, Serbia., [Dima, B.] Clin Europe Hop St Elisabeth, Brussels, Belgium., [Dolan, N.] Our Ladys Childrens Hosp, Dublin, Ireland., [Drozdz, D.; Miklaszewska, M.; Zachwieja, K.] Jagiellonian Univ, Med Coll Cracow, Pediat Nephrol & Hypertens, Krakow, Poland., [Drube, J.; Pape, L.] Hannover Med Sch, Hannover, Germany., [Dunand, O.; Leroy, V] Pediat Nephrol Unit St Denis, St Denis, Reunion, France., [Dusan, P.; Spasojevic, B.; Stabouli, S.] Aristotle Univ Thessaloniki, Dept Pediat, Thessaloniki, Greece., [Eid, L. A.] Dubai Hosp, Pediat Nephrol Dept, Dubai, U Arab Emirates., [Emma, F.; Massella, L.] Bambino Gesu Pediat Hosp, Rome, Italy., [Espino Hernandez, M.] Hosp Infantil 12 Octubre Madrid, Madrid, Spain., [Fila, M.; Hemery, F.; Morin, D.] CHU Arnaud Villeneuve, Montpellier, France., [Ghuysen, Ms] CHU Liege, Liege, Belgium., [Giordano, M.] Pediat Nephrol Unit, Bari, Italy., [Girisgen, I; Yuksel, S.] Pamukkale Univ, Med Fac, Dept Pediat Nephrol, Denizli, Turkey., [Godefroid, N.; Ranguelov, N.] Clin Univ St Luc, Brussels, Belgium., [Godron-Dubrasquet, A.; Harambat, J.; Ilanas, B.] Bordeaux Univ Childrens Hosp, Bordeaux, France., [Gonzalez, E.] Childrens Univ Hosp, Geneva, Switzerland., [Groothoff, J. W.] Emma Childrens Hosp, Amsterdam, Netherlands., [Guarino, S.; La Manna, A.; Marzuillo, P.] Univ Campania Luigi Vanvitelli, Caserta, Italy., [Guffens, A.] CHC Clin Esperence, Montegnee, Belgium., [Hansen, P.] CHU Tivoli, La Louviere, Belgium., [Haumann, S.] Univ Klinikum Koln, Cologne, Germany., [He, G.] Foshan Women & Children Hosp, Foshan, Peoples R China., [Helmy, R.] Cairo Univ, Kasr Al Ainy Sch Med, Cairo, Egypt., [Hooman, N.; Otoukesh, H.] Iran Univ Med Sci, Aliasghar Clin Res Dev Unit, Tehran, Iran., [Janssens, P.] Univ Hosp Brussels, Brussels, Belgium., [Karamaria, S.; Prytula, A.; Raes, A.; Snauwaert, E.; Vande Walle, J.] UZ Gent, Ghent, Belgium., [Koenig, J.] Univ Hosp Muenster, Munster, Germany., [Litwin, M.; Obrycki, L.] Childrens Mem Hlth Inst, Warsaw, Poland., [Lombet, J.] CHR Citadelle, Liege, Belgium., [Longo, G.; Murer, L.] Hosp Univ Padova, Pediat Nephrol Dialysis & Transplant Unit, Padua, Italy., [Mallawaarachchi, A.] Garvan Inst, Darlinghurst, NSW, Australia., [Mallawaarachchi, A.] Royal Prince Alfred Hosp, Camperdown, NSW, Australia., [Mallawaarachchi, A.; McCarthy, H.; Quinlan, C.] KidGen, Sydney, NSW, Australia., [McCarthy, H.] Childrens Hosp Westmead, Westmead, NSW, Australia., [McCarthy, H.] Sydney Childrens Hosp, Sydney, NSW, Australia., [Papizh, S.; Prikhodina, L.] Pirogov Russian Nat Res Med Uni, Res & Clin Inst Pediat, Moscow, Russia., [Parvex, P.; Wilhelm-Bals, A.] Childrens Univ Hosp Geneva, Geneva, Switzerland., [Pawlak-Bratkowska, M.; Szczepanik, E.; Tkaczyk, M.] Polish Mothers Mem Hosp, Res Inst, Lodz, Poland., [Quinlan, C.] RCH Melbourne, Melbourne, Vic, Australia., [Ranchin, B.] Hop Femme Mere Enfant, Bron, France., [Ronit, C.] Ctr Hosp Luxembourg, Clin Pediat, Luxembourg, Luxembourg., [Schaefer, S.; Wuehl, E.] Ctr Pediat & Adolescent, Div Pediat Nephrol, Heidelberg, Germany., [Schreuder, M.] Radboudumc Amalia Childrens Hosp, Nijmegen, Netherlands., [Schurmans, T.; Tram, N.] CHU Charleroi, Charleroi, Belgium., [Seeman, T.] Charles Univ Prague, Prague, Czech Republic., [Seeman, T.] Motol Univ Hosp, Prague, Czech Republic., [Sinha, M.] Evelina London Childrens Hosp, London, England., [Taranta-Janusz, K.] Dept Pediat & Nephrol, Bialystok, Poland., [Thumfart, J.] Berlin Charite Univ Med, Berlin, Germany., [Utsch, B.] Herford Hosp, Dept Paediat, Herford, Germany., [Yildirim, Z. Y.] Istanbul Univ, Fac Med, Pediat Nephrol Dept, Istanbul, Turkey.

Published
2019

18. Severe parental phenotype associates with hypertension in children with ADPKD.

Author

Demoulin N, Van Regemorter E, Dahan K, Hougardy C, Morelle J, Gillion V, Ranguelov N, and Godefroid N

Subjects
Male, Humans, Child, Female, Retrospective Studies, Phenotype, Parents, Polycystic Kidney, Autosomal Dominant complications, Polycystic Kidney, Autosomal Dominant genetics, Hypertension epidemiology, Hypertension genetics, Hypertension diagnosis
Abstract

Background: Early detection of hypertension in children with autosomal polycystic kidney disease (ADPKD) may be beneficial, but screening children at risk of ADPKD remains controversial. We investigated determinants of hypertension in children with ADPKD to help identify a subgroup of children at risk of ADPKD for whom screening for the disease and/or its complications would be more relevant., Methods: In a retrospective study including consecutive children with ADPKD aged 5-18 years and followed at Saint-Luc Hospital Brussels between 2006 and 2020, we investigated the potential association between genotype, clinical characteristics and parental phenotype, and presence of hypertension. Hypertension was defined as blood pressure > P95 during 24-h ambulatory monitoring or anti-hypertensive therapy use. Parental phenotype was considered severe based on age at kidney failure, Mayo Clinic Imaging Classification and rate of eGFR decline., Results: The study enrolled 55 children with ADPKD (mean age 9.9 ± 2.2 years, 45% male), including 44 with a PKD1 mutation and 5 with no mutation identified. Nine (16%) children had hypertension. Hypertension in children was associated with parental phenotype severity (8/27 (30%) children with severe parental phenotype vs. 1/23 (4%) children with non-severe parental phenotype (p = 0.03)) and height-adjusted bilateral nephromegaly (6/9 (67%) children with bilateral nephromegaly vs. 3/44 (7%) children without bilateral nephromegaly (p < 0.001))., Conclusions: Severe parental phenotype is associated with higher prevalence of hypertension in children with ADPKD. Hence, children of parents with severe ADPKD phenotype may be those who will most benefit from screening of the disease and/or yearly BP measures. A higher resolution version of the Graphical abstract is available as Supplementary information., (© 2023. The Author(s), under exclusive licence to International Pediatric Nephrology Association.)

Published
2023
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19. Characterization, evolution and risk factors of diabetes and prediabetes in a pediatric cohort of renal and liver transplant recipients.

Author

Welsch S, Mailleux V, le Hardy de Beaulieu P, Ranguelov N, Godefroid N, Robert A, Stephenne X, Scheers I, Reding R, Sokal EM, and Lysy PA

Abstract

Background: Hyperglycemia (HG) and prediabetes are rarely sought in pediatric liver (LT) and renal (RT) transplantation, yet their presence indicates a high risk of diabetes and cardiovascular disease. The objectives of our DIABGRAFT study were to retrospectively (rDIABGRAFT) and longitudinally (pDIABGRAFT) characterize HG and (pre)diabetes in a cohort of children with LT or/and RT., Methods: We retrospectively analyzed risk factors of HG from 195 children with LT from 2012 to 2019 and twenty children with RT from 2005 to 2019 at Cliniques universitaires Saint-Luc. In addition, we prospectively followed four LT and four RT children to evaluate the evolution of their glucose metabolism., Results: Our rDIABGRAFT study showed that 25% and 35% of LT and RT children respectively presented transient HG and 20% of RT developed diabetes. The occurrence of HG was associated with the use of glucocorticoids and with acute events as graft rejection and infection. In our pDIABGRAFT cohort, biological markers of diabetes were in the normal range for HbA 1C , fasting glucose and insulin levels. However, oral glucose tolerance test and glucose sensors showed insulin resistance, impaired glucose tolerance and HG in the post-prandial afternoon period., Conclusion: Our study shows that children with LT and RT were more at risk of developing HG when glucocorticoids were required and that HbA 1C and fasting glucose lack sensitivity for early detection of glucose intolerance. Also, measurement of glycemia immediately after the transplantation and in postprandial period is key to detect dysglycemia since insulin resistance prevailed in our cohort., Clinicaltrialsgov Id: NCT05464043., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (© 2023 Welsch, Mailleux, le Hardy de Beaulieu, Ranguelov, Godefroid, Robert, Stephenne, Scheers, Reding, Sokal and Lysy.)

Published
2023
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20. Phenotypic Variability in Siblings With Autosomal Recessive Polycystic Kidney Disease.

Author

Ajiri R, Burgmaier K, Akinci N, Broekaert I, Büscher A, Dursun I, Duzova A, Eid LA, Fila M, Gessner M, Gokce I, Massella L, Mastrangelo A, Miklaszewska M, Prikhodina L, Ranchin B, Ranguelov N, Rus R, Sever L, Thumfart J, Weber LT, Wühl E, Yilmaz A, Dötsch J, Schaefer F, and Liebau MC

Abstract

Introduction: Autosomal recessive polycystic kidney disease (ARPKD) is a rare monogenic disorder characterized by early onset fibrocystic hepatorenal changes. Previous reports have documented pronounced phenotypic variability even among siblings in terms of patient survival. The underlying causes for this clinical variability are incompletely understood., Methods: We present the longitudinal clinical courses of 35 sibling pairs included in the ARPKD registry study ARegPKD, encompassing data on primary manifestation, prenatal and perinatal findings, genetic testing, and family history, including kidney function, liver involvement, and radiological findings., Results: We identified 70 siblings from 35 families with a median age of 0.7 (interquartile range 0.1-6.0) years at initial diagnosis and a median follow-up time of 3.5 (0.2-6.2) years. Data on PKHD1 variants were available for 37 patients from 21 families. There were 8 patients from 7 families who required kidney replacement therapy (KRT) during follow-up. For 44 patients from 26 families, antihypertensive therapy was documented. Furthermore, 37 patients from 24 families had signs of portal hypertension with 9 patients from 6 families having substantial hepatic complications. Interestingly, pronounced variability in the clinical course of functional kidney disease was documented in only 3 sibling pairs. In 17 of 20 families of our cohort of neonatal survivors, siblings had only minor differences of kidney function at a comparable age., Conclusion: In patients surviving the neonatal period, our longitudinal follow-up of 70 ARPKD siblings from 35 families revealed comparable clinical courses of kidney and liver diseases in most families. The data suggest a strong impact of the underlying genotype., (© 2022 International Society of Nephrology. Published by Elsevier Inc.)

Published
2022
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21. Impact of New vs. Old International Children's Continence Society Standardization on the Classification of Treatment Naïve Enuresis Children at Screening: The Value of Voiding Diaries and Questionnaires.

Author

Karamaria S, Ranguelov N, Hansen P, De Boe V, Verleyen P, Segers N, Walle JV, Dossche L, and Bael A

Abstract

Expert consensus papers recommend differentiating enuresis using questionnaires and voiding diaries into non- (NMNE) and monosymptomatic enuresis (MNE) is crucial at intake to decide the most appropriate workout and treatment. This national, Belgian, prospective study investigates the correlation, consistency, and added value of the two methods, the new against the old International Children's Continence Society (ICCS) definitions, and documents the prevalence of the two enuresis subtypes in our population. Ninety treatment-naïve enuretic children were evaluated with the questionnaire, and the voiding diary and the two clinical management tools were compared. Almost 30% of the children had a different diagnosis with each method, and we observed inconsistencies between them in registering Lower Tract Symptoms (κ = -0.057-0.432 depending on the symptom). Both methods had a high correlation in identifying MNE ( rs = 0.612, p = 0.001) but not for NMNE ( rs = 0.127, p = 0.248). According to the latest ICCS definitions, the incidence of MNE was significantly lower (7 vs. 48%) with the old standardization., Conclusion: The voiding diary and the questionnaire, as recommended by the ICCS at the screening of treatment-naïve enuretic patients, are considerably inconsistent and have significantly different sensitivities in identifying LUTS and thus differentiating MNE from NMNE. However, the high incidence of LUTS and very low prevalence of MNE suggest that differentiating MNE from NMNE to the maximum might not always correlate with different therapy responses., Competing Interests: JW is a member of the advisory board, invited speaker, and PI of industry-sponsored studies of Astellas and Ferring. The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2022 Karamaria, Ranguelov, Hansen, De Boe, Verleyen, Segers, Walle, Dossche and Bael.)

Published
2022
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22. Refining genotype-phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants.

Author

Burgmaier K, Brinker L, Erger F, Beck BB, Benz MR, Bergmann C, Boyer O, Collard L, Dafinger C, Fila M, Kowalewska C, Lange-Sperandio B, Massella L, Mastrangelo A, Mekahli D, Miklaszewska M, Ortiz-Bruechle N, Patzer L, Prikhodina L, Ranchin B, Ranguelov N, Schild R, Seeman T, Sever L, Sikora P, Szczepanska M, Teixeira A, Thumfart J, Uetz B, Weber LT, Wühl E, Zerres K, Dötsch J, Schaefer F, and Liebau MC

Subjects
Child, Child, Preschool, Genetic Association Studies, Humans, Kidney, Mutation, Phenotype, Receptors, Cell Surface genetics, Polycystic Kidney, Autosomal Recessive diagnosis, Polycystic Kidney, Autosomal Recessive genetics
Abstract

Autosomal recessive polycystic kidney disease (ARPKD) is a severe disease of early childhood that is clinically characterized by fibrocystic changes of the kidneys and the liver. The main cause of ARPKD are variants in the PKHD1 gene encoding the large transmembrane protein fibrocystin. The mechanisms underlying the observed clinical heterogeneity in ARPKD remain incompletely understood, partly due to the fact that genotype-phenotype correlations have been limited to the association of biallelic null variants in PKHD1 with the most severe phenotypes. In this observational study we analyzed a deep clinical dataset of 304 patients with ARPKD from two independent cohorts and identified novel genotype-phenotype correlations during childhood and adolescence. Biallelic null variants frequently show severe courses. Additionally, our data suggest that the affected region in PKHD1 is important in determining the phenotype. Patients with two missense variants affecting amino acids 709-1837 of fibrocystin or a missense variant in this region and a null variant less frequently developed chronic kidney failure, and patients with missense variants affecting amino acids 1838-2624 showed better hepatic outcome. Variants affecting amino acids 2625-4074 of fibrocystin were associated with poorer hepatic outcome. Thus, our data expand the understanding of genotype-phenotype correlations in pediatric ARPKD patients and can lay the foundation for more precise and personalized counselling and treatment approaches., (Copyright © 2021 International Society of Nephrology. Published by Elsevier Inc. All rights reserved.)

Published
2021
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23. Fatal type B lactic acidosis in a patient with end-stage liver disease related to homozygous sickle cell disease.

Author

Masy V, Sokal E, Ranguelov N, Brichard B, Laterre PF, and Hantson P

Subjects
Acidosis, Lactic blood, Acidosis, Lactic drug therapy, Acidosis, Lactic therapy, Adolescent, Bicarbonates therapeutic use, Catheter-Related Infections complications, End Stage Liver Disease blood, Energy Metabolism, Fatal Outcome, Female, Hemochromatosis congenital, Hemochromatosis etiology, Hemochromatosis surgery, Hemofiltration, Humans, Hyperbilirubinemia etiology, Kidney Failure, Chronic etiology, Liver Transplantation, Mitochondria physiology, Postoperative Complications etiology, Seizures etiology, Subarachnoid Hemorrhage complications, Acidosis, Lactic etiology, Anemia, Sickle Cell complications, End Stage Liver Disease etiology
Published
2019
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24. Policy variation in donor and recipient status in 11 pediatric renal transplantation centers.

Author

van Huis M, Schoenmaker NJ, Groothoff JW, van der Lee JH, Cransberg K, Bouts AH, Collard L, van Dyck M, Godefroid N, van Hoeck K, Taylan C, Koster-Kamphuis L, Lilien MR, Raes A, and Ranguelov N

Subjects
Aged, Belgium, Child, Germany, Histocompatibility Testing, Humans, Middle Aged, Netherlands, Practice Guidelines as Topic, Tissue Donors, Kidney Transplantation
Abstract

Background: Evidence-based guidelines for pediatric renal transplantation (Tx) are lacking. This may lead to unwanted treatment variations. We aimed to quantify the variation in treatment policies and its consequences in daily practice in 11 centers that provide renal Tx for children in three European countries., Methods: We surveyed Tx policies in all ten centers in the Netherlands and Belgium and one center in Germany. We compared Tx policies with the therapies actually provided and with recommendations from available published guidelines and existing literature. Information on treatment policies was obtained by a questionnaire; information on care actually provided was registered prospectively from 2007 to 2011. The clinical guidelines were identified by searches of MEDLINE and websites of pediatric nephrology organizations., Results: Between centers, we found discrepancies in policies on: the minimum accepted recipient weight (8-12 kg), the maximum living and deceased donor age (50-75 and 45-60 years, respectively). HLA-match policies varied between acceptation of all mismatches to at least 1A1B1DR match donor transplantations amounting to 49 % in the Netherlands versus 26 % in Belgium (p = 0.006)., Conclusions: Management policies for renal Tx in children vary considerably between centers and nations. This has a direct impact on the delivered care, and by extrapolation, on health outcome.

Published
2013
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25. [An unusual case of duplication of the spinal canal].

Author

Ranguelov N, Sourtzis S, Delpierre I, Christophe C, and Louryan S

Subjects
Child, Preschool, Female, Fetal Alcohol Spectrum Disorders genetics, Hedgehog Proteins genetics, Humans, Male, Pregnancy, Radiography, Spinal Canal diagnostic imaging, Spinal Canal growth & development, Spinal Cord abnormalities, Spinal Cord diagnostic imaging, Spinal Cord growth & development, Abnormalities, Multiple etiology, Spinal Canal abnormalities
Abstract

We describe here a very rare congenital malformation, in which the vertebra Th 9 to 11 were divided into independent bodies and neural arches. The vertebral canal contained the spinal cord, whereas the space between bodies and arches was filled by nerve roots and a central remnant cord, not clearly connected to the main spinal cord. This malformation was considered as related to a fetal alcohol syndrome, with craniofacial and genitourinary abnormalities. The authors analyze, moreover the possible role of abnormal Sonic Hedgehog gene patterning in the pathogeny of this complex malformative sequence.

Published
2007

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