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1. Steroid-Resistant Nephrotic Syndrome due to NPHS2 Variants Is Not Associated With Posttransplant Recurrence

Author

Boutaba, Mounia, Csaiscich, Dagmar, Baiko, Sergay, Azocar, Marta, Quiroz, Lily, Serna Higuita, Lina Maria, Dušek, Jiří, Ranchin, Bruno, Zaloszyc, Adriane, Davitaia, Tinatin, Gellermann, Jutta, Oh, Jun, Melk, Anette, Schaefer, Franz, Staude, Hagen, Printza, Nikoleta, Tory, Kalman, Gheissari, Alaleh, Remuzzi, Giuseppe, Pasini, Andrea, Ghiggeri, Gian Marco, Ardissino, Gianluigi, Benetti, Elisa, Emma, Francesco, Camilla, Roberta, Nigmatullina, Nazym, Aoun, Bilal, Mourani, Chebl, Abou-Jaoudé, Pauline, Jankauskiene, Augustina, Wasilewska, Anna, Klekot, Lidia Hyla, Zurowska, Aleksandra, Drozdz, Dorota, Tkaczyk, Marcin, Sikora, Przemysław, Ostalska, Danuta, Brodkiewicz, Andrzej, Litwin, Mieczyslaw, Panczyk-Tomaszewska, Małgorzata, Medyńska, Anna, Szczepanska, Maria, Afonso, Alberto Caldas, Jardim, Helena, Lungu, Adrian, Tsygin, Alexej, Prikhodina, Larisa, Paripovic, Dusan, Bogdanovic, Radovan, Krmar, Rafael T., Saeed, Bassam, Anarat, Ali, Balat, Ayse, Baskin, Z. Esra, Cakar, Nilgun, Erdogan, Ozlem, Özcakar, Birsin, Ozaltin, Fatih, Sakallioglu, Onur, Soylemezoglu, Oguz, Akman, Sema, Gok, Faysal, Caliskan, Salim, Candan, Cengiz, Yilmaz, Alev, Sozeri, Betul, Akil, Ipek, Ertan, Pelin, Özkaya, Ozan, Kalyoncu, Mukaddes, Bitzan, Martin, Formina, Svitlana, Sobko, Roman, Kachmar, Jessica, Boyer, Olivia, Lipska-Ziętkiewicz, Beata, Morinière, Vincent, Gribouval, Olivier, Heidet, Laurence, Balasz-Chmielewska, Irena, Cloarec, Sylvie, Csaicsich, Dagmar, Decramer, Stéphane, Guigonis, Vincent, Hogan, Julien, Bayazit, Aysun Karabay, Tsimaratos, Michel, Trautmann, Agnes, Antignac, Corinne, and Dorval, Guillaume

Published
2024
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2. The impact of the Eurofever criteria and the new InFevers MEFV classification in real life: Results from a large international FMF cohort

Author

Bustaffa, Marta, Koné-Paut, Isabelle, Ozen, Seza, Amaryan, Gayane, Papadopoulou-Alataki, Efimia, Gallizzi, Romina, Carrabba, Maria, Aviel, Yonatan Butbul, Cantarini, Luca, Alessio, Maria, Anton, Jordi, Obici, Laura, Gok, Faysal, Batu, Ezgi Deniz, Moreno, Estefania, Brogan, Paul, Trachana, Maria, Simonini, Gabriele, Rigante, Donato, Uziel, Yosef, Insalaco, Antonella, Maggio, Maria Cristina, Ruperto, Nicolino, Gattorno, Marco, and Semerano, L. Rossi

Published
2022
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3. ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption

Author

Ashraf, Shazia, Gee, Heon Yung, Woerner, Stephanie, Xie, Letian X, Vega-Warner, Virginia, Lovric, Svjetlana, Fang, Humphrey, Song, Xuewen, Cattran, Daniel C, Avila-Casado, Carmen, Paterson, Andrew D, Nitschké, Patrick, Bole-Feysot, Christine, Cochat, Pierre, Esteve-Rudd, Julian, Haberberger, Birgit, Allen, Susan J, Zhou, Weibin, Airik, Rannar, Otto, Edgar A, Barua, Moumita, Al-Hamed, Mohamed H, Kari, Jameela A, Evans, Jonathan, Bierzynska, Agnieszka, Saleem, Moin A, Böckenhauer, Detlef, Kleta, Robert, Desoky, Sherif El, Hacihamdioglu, Duygu O, Gok, Faysal, Washburn, Joseph, Wiggins, Roger C, Choi, Murim, Lifton, Richard P, Levy, Shawn, Han, Zhe, Salviati, Leonardo, Prokisch, Holger, Williams, David S, Pollak, Martin, Clarke, Catherine F, Pei, York, Antignac, Corinne, and Hildebrandt, Friedhelm

Subjects
Biological Sciences, Biomedical and Clinical Sciences, Genetics, Clinical Research, Complementary and Integrative Health, Aetiology, 2.1 Biological and endogenous factors, Renal and urogenital, Adolescent, Adrenal Cortex Hormones, Amino Acid Sequence, Animals, Cells, Cultured, Child, Consanguinity, Conserved Sequence, DNA Mutational Analysis, Disease Models, Animal, Drosophila Proteins, Drug Resistance, Exome, Fibroblasts, Gene Knockdown Techniques, Humans, Mitochondria, Molecular Sequence Data, Mutation, Nephrotic Syndrome, Podocytes, Protein Kinases, Rats, Sequence Alignment, Sequence Homology, Amino Acid, Ubiquinone, Young Adult, Zebrafish, Zebrafish Proteins, Medical and Health Sciences, Immunology, Biological sciences, Biomedical and clinical sciences, Health sciences
Abstract

Identification of single-gene causes of steroid-resistant nephrotic syndrome (SRNS) has furthered the understanding of the pathogenesis of this disease. Here, using a combination of homozygosity mapping and whole human exome resequencing, we identified mutations in the aarF domain containing kinase 4 (ADCK4) gene in 15 individuals with SRNS from 8 unrelated families. ADCK4 was highly similar to ADCK3, which has been shown to participate in coenzyme Q10 (CoQ10) biosynthesis. Mutations in ADCK4 resulted in reduced CoQ10 levels and reduced mitochondrial respiratory enzyme activity in cells isolated from individuals with SRNS and transformed lymphoblasts. Knockdown of adck4 in zebrafish and Drosophila recapitulated nephrotic syndrome-associated phenotypes. Furthermore, ADCK4 was expressed in glomerular podocytes and partially localized to podocyte mitochondria and foot processes in rat kidneys and cultured human podocytes. In human podocytes, ADCK4 interacted with members of the CoQ10 biosynthesis pathway, including COQ6, which has been linked with SRNS and COQ7. Knockdown of ADCK4 in podocytes resulted in decreased migration, which was reversed by CoQ10 addition. Interestingly, a patient with SRNS with a homozygous ADCK4 frameshift mutation had partial remission following CoQ10 treatment. These data indicate that individuals with SRNS with mutations in ADCK4 or other genes that participate in CoQ10 biosynthesis may be treatable with CoQ10.

Published
2013

4. Corrigendum to The impact of the Eurofever criteria and the new InFevers MEFV classification in real life: Results from a large international FMF cohort

Author

Bustaffa, Marta, primary, Koné-Paut, Isabelle, additional, Ozen, Seza, additional, Amaryan, Gayane, additional, Papadopoulou-Alataki, Efimia, additional, Gallizzi, Romina, additional, Carrabba, Maria, additional, Aviel, Yonatan Butbul, additional, Cantarini, Luca, additional, Alessio, Maria, additional, Anton, Jordi, additional, Obici, Laura, additional, Gok, Faysal, additional, Batu, Ezgi Deniz, additional, Moreno, Estefania, additional, Brogan, Paul, additional, Trachana, Maria, additional, Simonini, Gabriele, additional, Rigante, Donato, additional, Uziel, Yosef, additional, Insalaco, Antonella, additional, Maggio, Maria Cristina, additional, Ruperto, Nicolino, additional, Gattorno, Marco, additional, and Semerano, L Rossi, additional

Published
2023
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5. Genetic screening in adolescents with steroid-resistant nephrotic syndrome

Author

Lipska, Beata S., Iatropoulos, Paraskevas, Maranta, Ramona, Caridi, Gianluca, Ozaltin, Fatih, Anarat, Ali, Balat, Ayse, Gellermann, Jutta, Trautmann, Agnes, Erdogan, Ozlem, Saeed, Bassam, Emre, Sevinc, Bogdanovic, Radovan, Azocar, Marta, Balasz-Chmielewska, Irena, Benetti, Elisa, Caliskan, Salim, Mir, Sevgi, Melk, Anette, Ertan, Pelin, Baskin, Esra, Jardim, Helena, Davitaia, Tinatin, Wasilewska, Anna, Drozdz, Dorota, Szczepanska, Maria, Jankauskiene, Augustina, Higuita, Lina Maria Serna, Ardissino, Gianluigi, Ozkaya, Ozan, Kuzma-Mroczkowska, Elzbieta, Soylemezoglu, Oguz, Ranchin, Bruno, Medynska, Anna, Tkaczyk, Marcin, Peco-Antic, Amira, Akil, Ipek, Jarmolinski, Tomasz, Firszt-Adamczyk, Agnieszka, Dusek, Jiri, Simonetti, Giacomo D., Gok, Faysal, Gheissari, Alaleh, Emma, Francesco, Krmar, Rafael T., Fischbach, Michel, Printza, Nikoleta, Simkova, Eva, Mele, Caterina, Ghiggeri, Gian Marco, and Schaefer, Franz

Published
2013
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6. Congenital Proprotein Convertase 1/3 Deficiency Causes Malabsorptive Diarrhea and Other Endocrinopathies in a Pediatric Cohort

Author

Martín, Martín G., Lindberg, Iris, Solorzano–Vargas, R. Sergio, Wang, Jiafang, Avitzur, Yaron, Bandsma, Robert, Sokollik, Christiane, Lawrence, Sarah, Pickett, Lindsay A., Chen, Zijun, Egritas, Odul, Dalgic, Buket, Albornoz, Valeria, de Ridder, Lissy, Hulst, Jessie, Gok, Faysal, Aydoğan, Ayşen, Al–Hussaini, Abdulrahman, Gok, Deniz Engin, Yourshaw, Michael, Wu, S. Vincent, Cortina, Galen, Stanford, Sara, and Georgia, Senta

Published
2013
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8. Long-Term Outcome of Steroid-Resistant Nephrotic Syndrome in Children

Author

Trautmann, Agnes, Schnaidt, Sven, Lipska-Ziętkiewicz, Beata S., Bodria, Monica, Ozaltin, Fatih, Emma, Francesco, Anarat, Ali, Melk, Anette, Azocar, Marta, Oh, Jun, Saeed, Bassam, Gheisari, Alaleh, Caliskan, Salim, Gellermann, Jutta, Higuita, Lina Maria Serna, Jankauskiene, Augustina, Drozdz, Dorota, Mir, Sevgi, Balat, Ayse, Szczepanska, Maria, Paripovic, Dusan, Zurowska, Alexandra, Bogdanovic, Radovan, Yilmaz, Alev, Ranchin, Bruno, Baskin, Esra, Erdogan, Ozlem, Remuzzi, Giuseppe, Firszt-Adamczyk, Agnieszka, Kuzma-Mroczkowska, Elzbieta, Litwin, Mieczyslaw, Murer, Luisa, Tkaczyk, Marcin, Jardim, Helena, Wasilewska, Anna, Printza, Nikoleta, Fidan, Kibriya, Simkova, Eva, Borzecka, Halina, Staude, Hagen, Hees, Katharina, Schaefer, Franz, Azocar, M, Quiroz, Lily, Higuita, LM Serna, Dušek, Jiří, Ranchin, B, Fischbach, Michel, Davitaia, Tinatin, Gellerman, J, Oh, J, Melk, A, Schaefer, F, Wigger, Marianne, Printza, N, Sallay, Peter, Gheissari, Alaleh, Noris, Marina, Pasini, Andrea, Ghiggeri, Gian Marco, Ardissino, Gianluigi, Benetti, Elisa, Emma, F, Aoun, Bilal, Abou-Jaoudé, Pauline, Jankauskiene, A, Wasilewska, A, Gacka, Ewa, Zurowska, A, Drozdz, D, Tkaczyk, M, Lodz, Małgorzata Stańczyk, Borzecka, H, Silska, Magdalena, Jarmolinski, Tomasz, Firszt-Adamczyk, A, Ksiazek, Joanna, Kuzma-Mroczkowska, E, Medynska, Anna, Szczepanska, M, Afonso, Alberto Caldas, Jardim, H, Belgrade, Amira Peco-Antic, Bogdanovic, R, Krmar, Rafael T, Simonetti, Giacomo D, Saeed, B, Anarat, A, Balat, A, Baskin, E, Cakar, Nilgun, Erdogan, O, Özcakar, Birsin, Ozaltin, F, Sakallioglu, Onur, Soylemezoglu, Oguz, Akman, Sema, Gok, Faysal, Caliskan, S, Candan, Cengiz, Yilmaz, A, Mir, S, Akil, Ipek, Ertan, Pelin, Özkaya, Ozan, Kalyoncu, Mukaddes, Simkova, E, Alhammadi, Entesar, and Sobko, Roman

Published
2017
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12. QT and JT dispersion and cardiac performance in children with neonatal Bartter syndrome: a pilot study

Author

Hacihamdioglu, Duygu Ovunc, Fidanci, Kursat, Kilic, Ayhan, Gok, Faysal, and Topaloglu, Rezan

Subjects
Arrhythmia -- Risk factors -- Research, Electrocardiography -- Usage, Children -- Health aspects, Electrocardiogram -- Usage, Hyperaldosteronism -- Control -- Diagnosis -- Demographic aspects -- Complications and side effects, Health
Abstract

Background QT dispersion and JT dispersion are simple noninvasive arrhythmogenic markers that can be used to assess the homogeneity of cardiac repolarization. The aim of this study was to assess QT and JT dispersion and their relation with left ventricular systolic and diastolic functions in children with Bartter syndrome (BS). Methods Nine neonatal patients with BS (median age 9.7 years) and 20 controls (median age 8 years) were investigated at rest. Both study and control subjects underwent electrocardiography (ECG) in which the interval between two R waves and QT intervals, corrected QT, QT dispersion, corrected QT dispersion, JT, corrected JT, JT dispersion and corrected JT dispersion were measured with 12-lead ECG. Two-dimensional, Doppler echocardiographic examinations were performed. Results Patients and controls did not differ for gender and for serum levels of potassium, magnesium, and calcium (p>0.05). Both study and control subjects had normal echocardiographic examination and baseline myocardial performance indexes. The QT dispersion and JT dispersion were significantly prolonged in patients with BS compared to those of the controls {37.5 ms [interquartile range (IQR) 32.5-40] vs. 25.5 ms (IQR 20-30), respectively, p=0.014 and 37.5 ms (IQR 27.5-40) vs. 22.5 ms (IQR 20-30), respectively, p=0.003}. Conclusions Elevated QT and JT dispersion during asymptomatic and normokalemic periods may be risk factors for the development of cardiac complications and arrhythmias in children with BS. In these patients the need for systematic cardiac screening and management protocol is extremely important for effective prevention. Keywords Bartter syndrome * Cardiac arrhythmia * QT dispersion * Electrocardiography * JT dispersion, Introduction Bartter syndrome (BS) is a well-defined inherited salt-losing tubulopathy caused by loss-of-function mutations in any one of the four major components of the sodium chloride (NaCl) reabsorptive machinery in [...]

Published
2013
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17. Childhood vasculitides in Turkey: a nationwide survey

Author

Ozen, Seza, Bakkaloglu, Aysin, Dusunsel, Ruhan, Soylemezoglu, Oguz, Ozaltin, Fatih, Poyrazoglu, Hakan, Kasapcopur, Ozgur, Ozkaya, Ozan, Yalcinkaya, Fatos, Balat, Ayse, Kural, Nurdan, Donmez, Osman, Alpay, Harika, Anarat, Ali, Mir, Sevgi, Gur-Guven, Ayfer, Sonmez, Ferah, Gok, Faysal, and On behalf of Turkish Pediatric Vasculitis Study Group

Published
2007
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19. Opportunistic infections in immunosuppressed patients with juvenile idiopathic arthritis: Analysis by the Pharmachild Safety Adjudication Committee

Author

Immuno/reuma patientenzorg, Child Health, Infectieziekten patientenzorg, Infection & Immunity, Cluster B, Immuno/reuma onderzoek 1 (Vastert), Immunologie/Reumatologie, Regenerative Medicine and Stem Cells, Onderzoek, Giancane, Gabriella, Swart, Joost F., Castagnola, Elio, Groll, Andreas H., Horneff, Gerd, Huppertz, Hans Iko, Lovell, Daniel J., Wolfs, Tom, Herlin, Troels, Dolezalova, Pavla, Sanner, Helga, Susic, Gordana, Sztajnbok, Flavio, Maritsi, Despoina, Constantin, Tamas, Vargova, Veronika, Sawhney, Sujata, Rygg, Marite, Oliveira, Sheila K., Cattalini, Marco, Bovis, Francesca, Bagnasco, Francesca, Pistorio, Angela, Martini, Alberto, Wulffraat, Nico, Ruperto, Nicolino, Cuttica, Ruben, Garay, Stella Maris, Brunner, Jurgen, Emminger, Wolfgang, Appenzeller, Simone, Len, Claudio, Saad Magalhaes, Claudia, Telcharova-Mihaylovska, Albena, Harjacek, Miroslav, Jelusic, Marija, Estmann, Anne, Nielsen, Susan, Herrera Mora, Cristina, Gervais, Elisabeth, Koné-Paut, Isabelle, Quartier, Pierre, Foeldvari, Ivan, Lutz, Thomas, Minden, Kirsten, Tzaribachev, Nikolay, Trachana, Maria, Tsitsami, Elena, Vougiouka, Olga, Orban, Ilonka, Harel, Liora, Hashkes, Philip, Uziel, Yosef, Cimaz, Rolando, Civino, Adele, Consolini, Rita, D'Angelo, Gianfranco, De Benedetti, Fabrizio, Filocamo, Giovanni, Fueri, Elena, Gallizzi, Romina, Maggio, Maria Cristina, Magnolia, Maria Greca, Miniaci, Angela, Montin, Davide, Olivieri, Alma Nunzia, Pastore, Serena, Rigante, Donato, Zulian, Francesco, Rumba-Rozenfelde, Ingrida, Stanevicha, Valda, Panaviene, Violeta, Rodriguez Lozano, Ana Luisa, Rubio-Perez, Nadina, Vega Cornejo, Gabriel, Hoppenreijs, Esther, Kamphuis, Sylvia, Flato, Berit, Nordal, Ellen Berit, Abdwani, Reem, Miraval, Tatiana, Paz Gastanaga, Maria Eliana, Smolewska, Elzbieta, Ailioaie, Constantin, Cochino, Alexis Virgil, Laday, Matilda, Lazar, Calin, Alexeeva, Ekaterina, Chasnyk, Vyacheslav, Keltsev, Vladimir, Suwairi, Wafaa Mohammed Saad, Vijatov-Djuric, Gordana, Vojinovic, Jelena, Arkachaisri, Thaschawee, Koskova, Elena, Avcin, Tadej, Ally, Mahmood, Van Rensburg, Christa Janse, Louw, Ingrid, Lopez, Jordi Anton, Boteanu, Alina Lucica, Calvo Penades, Inmaculada, De Inocencio, Jaime, Mesa-Del-Castillo, Pablo, Moreno, Estefania, Remesal, Agustin, Hofer, Michael, Gok, Faysal, Ozen, Seza, Ramanan, Athimalaipet, Pallotti, Chiara, Villa, Luca, Immuno/reuma patientenzorg, Child Health, Infectieziekten patientenzorg, Infection & Immunity, Cluster B, Immuno/reuma onderzoek 1 (Vastert), Immunologie/Reumatologie, Regenerative Medicine and Stem Cells, Onderzoek, Giancane, Gabriella, Swart, Joost F., Castagnola, Elio, Groll, Andreas H., Horneff, Gerd, Huppertz, Hans Iko, Lovell, Daniel J., Wolfs, Tom, Herlin, Troels, Dolezalova, Pavla, Sanner, Helga, Susic, Gordana, Sztajnbok, Flavio, Maritsi, Despoina, Constantin, Tamas, Vargova, Veronika, Sawhney, Sujata, Rygg, Marite, Oliveira, Sheila K., Cattalini, Marco, Bovis, Francesca, Bagnasco, Francesca, Pistorio, Angela, Martini, Alberto, Wulffraat, Nico, Ruperto, Nicolino, Cuttica, Ruben, Garay, Stella Maris, Brunner, Jurgen, Emminger, Wolfgang, Appenzeller, Simone, Len, Claudio, Saad Magalhaes, Claudia, Telcharova-Mihaylovska, Albena, Harjacek, Miroslav, Jelusic, Marija, Estmann, Anne, Nielsen, Susan, Herrera Mora, Cristina, Gervais, Elisabeth, Koné-Paut, Isabelle, Quartier, Pierre, Foeldvari, Ivan, Lutz, Thomas, Minden, Kirsten, Tzaribachev, Nikolay, Trachana, Maria, Tsitsami, Elena, Vougiouka, Olga, Orban, Ilonka, Harel, Liora, Hashkes, Philip, Uziel, Yosef, Cimaz, Rolando, Civino, Adele, Consolini, Rita, D'Angelo, Gianfranco, De Benedetti, Fabrizio, Filocamo, Giovanni, Fueri, Elena, Gallizzi, Romina, Maggio, Maria Cristina, Magnolia, Maria Greca, Miniaci, Angela, Montin, Davide, Olivieri, Alma Nunzia, Pastore, Serena, Rigante, Donato, Zulian, Francesco, Rumba-Rozenfelde, Ingrida, Stanevicha, Valda, Panaviene, Violeta, Rodriguez Lozano, Ana Luisa, Rubio-Perez, Nadina, Vega Cornejo, Gabriel, Hoppenreijs, Esther, Kamphuis, Sylvia, Flato, Berit, Nordal, Ellen Berit, Abdwani, Reem, Miraval, Tatiana, Paz Gastanaga, Maria Eliana, Smolewska, Elzbieta, Ailioaie, Constantin, Cochino, Alexis Virgil, Laday, Matilda, Lazar, Calin, Alexeeva, Ekaterina, Chasnyk, Vyacheslav, Keltsev, Vladimir, Suwairi, Wafaa Mohammed Saad, Vijatov-Djuric, Gordana, Vojinovic, Jelena, Arkachaisri, Thaschawee, Koskova, Elena, Avcin, Tadej, Ally, Mahmood, Van Rensburg, Christa Janse, Louw, Ingrid, Lopez, Jordi Anton, Boteanu, Alina Lucica, Calvo Penades, Inmaculada, De Inocencio, Jaime, Mesa-Del-Castillo, Pablo, Moreno, Estefania, Remesal, Agustin, Hofer, Michael, Gok, Faysal, Ozen, Seza, Ramanan, Athimalaipet, Pallotti, Chiara, and Villa, Luca

Published
2020

25. Acute renal failure after overdose of colloidal bismuth subcitrate

Author

Cengiz, Nurcan, Uslu, Yasemin, Gok, Faysal, and Anarat, Ali

Subjects
Acute renal failure -- Causes of, Acute renal failure -- Diagnosis, Acute renal failure -- Drug therapy, Acute renal failure -- Case studies, Bismuth subsalicylate -- Dosage and administration, Children -- Health aspects, Hemodialysis -- Usage
Abstract

Abstract Bismuth salts are widely used to treat peptic ulcers. Acute toxicity with colloidal bismuth subcitrate overdose causes nephrotoxicity. There have been numerous reports of encephalopathy after long-term consumption of [...]

Published
2005

28. Reversible nephrotoxicity after overdose of colloidal bismuth subcitrate

Author

AdegAlek, Adegsmail, Uysal, Serap, Gok, Faysal, Dundaroz, RuAen, and Kucukoduk, Sukru

Subjects
Acute renal failure -- Case studies, Acute renal failure -- Care and treatment, Continuous ambulatory peritoneal dialysis -- Usage, Peritoneal dialysis -- Usage, Acute renal failure in children -- Case studies, Acute renal failure in children -- Care and treatment, Drugs -- Overdose, Drugs -- Case studies, Children -- Diseases, Children -- Case studies, Children -- Care and treatment
Abstract

Byline: Adegsmail AdegAlek (1), Serap Uysal (1), Faysal Gok (2), RuAen Dundaroz (2), Sukru Kucukoduk (1) Keywords: KeywordsaBismuth subcitrate overdose; Acute renal failure; Peritoneal dialysis; Child Abstract: Although toxicity due to acute and chronic use of bismuth salts is well known, nephrotoxicity after ingestion of colloidal bismuth has been reported in few cases so far. Here we report the first case of acute renal failure (ARF) due to colloidal bismuth subcitrate overdosage in childhood. A 2-year-old boy was admitted to the hospital 6 h after ingestion of 28 De-Nol tablets (colloidal bismuth subcitrate 8.4 g). On admission, physical examination was unremarkable and he showed no signs of encephalopathy. Initially gastric lavage was performed then appropriate fluid therapy was started. ARF associated with uremia and oliguria developed on day 2 and peritoneal dialysis therapy was prescribed on day 4 for 10 days. Blood and urine bismuth levels were 739 Aug/l and 693 Aug/l, respectively, 10 days after the pills had been taken. His urine volume gradually increased and plasma BUN and creatinine levels decreased during peritoneal dialysis. On day 20 post-admission, plasma BUN and creatinine were 14 mg/dl and 0.7 mg/dl, respectively. Blood bismuth levels were 96 Aug/l on day 60 and 12 Aug/l on day 105. Now the patient is well and has no problem. This case suggests that ARF may develop in children following colloidal bismuth subcitrate overdosage the prognosis is good, and peritoneal dialysis may be useful in these cases. Author Affiliation: (1) Ondokuz Mayys University, School of Medicine, Department of Pediatrics, Samsun, Turkey e-mail: iislek@omu.edu.tr Tel.: +90-362-457-6000/2456, Fax: 90-362-457-6041, TR (2) Gulhane Military Medical School, Department of Pediatrics, Ankara, Turkey, TR Article note: Received: 25 February 2000 / Revised: 5 December 2000 / Accepted: 17 January 2001

Published
2001
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40. Collapsing Glomerulopathy in a Child with Galloway-Mowat Syndrome

Author

Zeybek, Cengiz, Basbozkurt, Gokalp, Hamcan, Salih, Ozcan, Ayhan, Gul, Davut, and Gok, Faysal

Subjects
Article Subject
Abstract

Galloway-Mowat syndrome (GMS) is an autosomal recessive disorder with a poor prognosis that was first defined as a triad of central nervous system involvement, hiatal hernia, and nephrotic syndrome. However, this syndrome is now known to have a heterogeneous clinical presentation. The nephrotic syndrome is steroid resistant and is responsible for the outcome. The combination of collapsing glomerulopathy and GMS is very rare. A 26-month-old boy presented with steroid-resistant nephrotic syndrome associated with neurologic findings, including microcephaly, psychomotor retardation, and nystagmus. Magnetic resonance imaging showed marked cerebral atrophy, optic atrophy, and hypomyelination. A renal biopsy was consistent with collapsing glomerulopathy. If collapsing glomerulopathy is associated with neurological abnormalities, especially with microcephaly, clinicians should consider GMS as a possible underlying cause.

Published
2016
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41. Transverse Myelitis: An unusual association

Author

KALKAN, Gokhan, KARAOGLU, Abdulbaki, VURUCU, Sebahattin, UNAY, Bulent, GOK, Faysal, AKİN, Ridvan, and ARSLAN, Mehmet Tayyip

Abstract

Transverse myelitis (TM) is an acute inflammation of spinal cord characterized by demyelination. Infectious, inflammatory and autoimmune etiologies constitute the most common etiologies of TM. It is believed that pathlogical changes in infection related cases occur due to altered immune response rather than direct effect of the infection. Methicillin resistant Staphylococcus aureus (MRSA) a well known agent of hospital and sometimes community acquired pneumonia leads to increased morbidity and mortality. Here we describe a case of transverse myelitis as an unusual complication of MRSA pneumonia. To our knowledge, this is the first reported case of transverse myelitis developed with MRSA pneumonia. Key words: Methycilline resistant staphylococcus aureus, pneumonia, transverse myelitis

Published
2015

42. A New Mutation in Blau Syndrome

Author

Zeybek, Cengiz, Basbozkurt, Gokalp, Gul, Davut, Demirkaya, Erkan, and Gok, Faysal

Subjects
Article Subject
Abstract

Blau syndrome is a rare, autosomal dominant, granulomatous autoinflammatory disease. The classic triad of the disease includes recurrent uveitis, granulomatous dermatitis, and symmetrical arthritis. Blau syndrome is related to mutations located at the 16q12.2–13 gene locus. To date, 11 NOD2 gene mutations causing Blau syndrome have been described. Here, we describe a 5-year-old male patient who presented with Blau syndrome associated with a novel sporadic gene mutation that has not been reported previously.

Published
2015
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43. Novel OCRL1 Mutations in Patients With the Phenotype of Dent Disease

Author

Utsch, Boris, Bökenkamp, Arend, Benz, Marcus R., Besbas, Nesrin, Dötsch, Jörg, Franke, Ingo, Fründ, Stefan, Gok, Faysal, Hoppe, Bernd, Karle, Stephanie, Kuwertz-Bröking, Eberhard, Laube, Guido, Neb, Margarita, Nuutinen, Matti, Ozaltin, Fatih, Rascher, Wolfgang, Ring, Troels, Tasic, Velibor, van Wijk, Joanna A.E., and Ludwig, Michael

Published
2006
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