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42 results on '"Roussey, Gwenaelle"'

1. Renal and Extrarenal Phenotypes in Patients With HNF1B Variants and Chromosome 17q12 Microdeletions

Author

Ariceta, Gema, Benetti, Elisa, Benz, Marcus R., Bjerre, Anna, Boudailliez, Bernard R., Bouts, Antonia, Drube, Jens, Gjerstad, Ann Christin, Jankauskiene, Augustina, Jávorszky, Eszter, Jay, Nadine, Kirschstein, Martin, Varda, Nataša Marčun, Niel, Olivier, Nobili, François, Pietrement, Christine, Ruzgiene, Dovile, Schild, Raphael, Staude, Hagen, Tory, Kálmán, Tsimaratos, Michel, Walden, Ulrike, Zappel, Hildegard, Buffin-Meyer, Bénédicte, Richard, Juliette, Guigonis, Vincent, Weber, Stefanie, König, Jens, Heidet, Laurence, Moussaoui, Nabila, Vu, Jeanne-Pierrette, Faguer, Stanislas, Casemayou, Audrey, Prakash, Richa, Baudouin, Véronique, Hogan, Julien, Alexandrou, Demi, Bockenhauer, Detlef, Bacchetta, Justine, Ranchin, Bruno, Pruhova, Stepanka, Zieg, Jakub, Lahoche, Annie, Okorn, Christine, Antal-Kónya, Violetta, Morin, Denis, Becherucci, Francesca, Habbig, Sandra, Liebau, Max C., Mauras, Mathilde, Nijenhuis, Tom, Llanas, Brigitte, Mekahli, Djalila, Thumfart, Julia, Tönshoff, Burkhard, Massella, Laura, Eckart, Philippe, Cloarec, Sylvie, Cruz, Alejandro, Patzer, Ludwig, Roussey, Gwenaelle, Vrillon, Isabelle, Dunand, Olivier, Bessenay, Lucie, Taroni, Francesca, Zaniew, Marcin, Louillet, Ferielle, Bergmann, Carsten, Schaefer, Franz, van Eerde, Albertien M., Schanstra, Joost P., and Decramer, Stéphane

Published
2024
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2. The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies

Author

Attié-Bitach, Tania, Comier-Daire, Valerie, Rozet, Jean-Michel, Frishberg, Yaacov, Llanas, Brigitte, Broyer, Michel, Mohsin, Nabil, Macher, Marie-Alice, Philip, Nicole, Baudouin, Véronique, Brackman, Damian, Loirat, Chantal, Charbit, Marina, Dehennault, Maud, Guyot, Claude, Bataille, Pierre, Elting, Mariet, Deschenes, Georges, Gropman, Andrea, Guest, Geneviève, Gagnadoux, Marie-France, Nicoud, Philippe, Cochat, Pierre, Ranchin, Bruno, Bensman, Albert, Guerrot, Anne-Marie, Knebelmann, Bertrand, Bilge, Ilmay, Bruno, Danièle, Burtey, Stéphane, Rouvière, Caroline Rousset, Caudwell, Valérie, Morin, Denis, Dollfus, Hélène, Maisin, Anne, Hamel, Christian, Bieth, Eric, Gie, Sophie, Goodship, Judith, Roussey, Gwenaelle, La Selve, Hermine, Nivet, Hubert, Bessenay, Lucie, Caillez, Mathilde, Palcoux, Jean Bernard, Benoît, Stéphane, Dubot, Philippe, Fila, Marc, Giuliano, Fabienne, Iftene, Daouya, Kessler, Michele, Kwon, Theresa, Lahoche, Anine, Laurent, Audrey, Leclerc, Anne-Laure, Milford, David, Neuhaus, Thomas, Odent, Sylvie, Eckart, Philippe, Chauveau, Dominique, Niaudet, Patrick, Repetto, Horacio, Taque, Sophie, Bruel, Alexandra, Noel-Botte, Alexandra, Launay, Emma Allain, Allard, Lisa, Anlicheau, Dany, Adra, Anne-Laure, Garnier, Arnaud, Nagra, Arvind, Baatard, Remy, Bacchetta, Justine, Sadikoglu, Banu, Barnerias, Christine, Barthelemy, Anne, Basel, Lina, Bassilios, Nader, Ben Maiz, Hedi, Ben Moussa, Fatma, Benmati, Faïza, Berthaud, Romain, Bertholet, Aurélia, Blanchier, Dominique, Boffa, Jean Jacques, Bouchireb, Karim, Bouhabel, Ihab, Boukerroucha, Zakaria, Bourdat-Michel, Guylhène, Boute, Odile, Brochard, Karine, Caumes, Roseline, Elalaoui, Siham Chafai, Chamontin, Bernard, Chastang, Marie Caroline, Pietrement, Christine, Richer, Christine, Legendre, Christophe, Dahan, Karin, Dalla-Vale, Fabienne, Thibaudin, Damien, Dauvergne, Maxime, Davourie, Salandre, Debeukelaer, Martin, Delbet, Jean Daniel, Deltas, Constantinos, Graber, Denis, Devillars, Nadège, Diouf, Boucar, Fenzy, Martine Doco, André, Jean-Luc, Joly, Dominique, Fryer, Alan, Albano, Laetitia, Cassuto, Elisabeth, Pincon, Aline, Medeira, Ana, Chaussenot, Annabelle, Mensire-Marinier, Anne, Bouissou, Francois, Decramer, Stephane, Bottani, Armand, Hummel, Aurélie, Karras, Alexandre, Katz, Avi, Azema, Christine, Janbon, Bénédicte, Roussel, Bernard, Bonniol, Claude, Mariat, Christiophe, Champion, Gérard, Chantreuil, Deborah, Chassaing, Nicolas, Mousson, Christiane, Baudeau, Christine, Cuntz, Delphine Hafdar, Mignot, Cyril, Dehoux, Laurene, Lacombe, Didier, Hannedouche, Thierry, Mérieau, Elodie, Charlin, Emmanuelle, Gauthier, Eric, Plasse, Florent, Faguer, Stanislas, Lebas, Fanny, Demurger, Florence, Emma, Francesco, Cartault, François, Dumont, Geneviève, Godefroid, Nathalie, Guigonis, Vincent, Hillaire, Sophie, Groothoff, Jaap, Dudley, Jan, Jourde-Chiche, Noémie, El Karoui, Khalil, Krid, Saoussen, Coudert, Krier, Bencheick, Larbi, Yver, Laurent, Lavocat, Marie-Pierre, De Sagazan, Le Monies, Leroy, Valerie, Thibaudin, Lise, Ingulli, Liz, Gwanmesia, Lorraine, Burglen, Lydie, Saïd-Menthon, Marie-Hélène, Carrera, Marta, Nizon, Mathilde, Melander, Catherine, Foulard, Michel, Blayo, Monique, Prinseau, Jacques, Jay, Nadine, Brun, Nathalie, Camille, Nicolas, Nobili, François, Devuyst, Olivier, Ben Brahim, Ouafa, Parvex, Paloma, Sabourin, Laurence Perrin, Blanc, Philippe, Vanhille, Philippe, Galichon, Pierre, Pierrepont, Sophie, Planquois, Vincent, Poussard, Gwenaelle, Noble, Claire Pouteil, Allal, Radia, Bernard, Raphaelle, Mounet, Raynaud, Cahen, Rémi, Touraine, Renaud, Rigothier, Claire, Ryckewaert, Amélie, Sacquepee, Mathieu, El Chehadeh, Salima, Samaille, Charlotte, Haq, Shuman, Simckes, Ari, Lanoiselée, Stéphanie, Tellier, Stephanie, Subra, Jean-François, Cloarec, Sylvie, Tenenbam, Julie, Lamy, Thomas, Garraud, Valérie Drouin, Valette, Huguette, Meyssonnier, Vanina, Vargas-Poussou, Rosa, Snajer, Yves, Durault, Sandrine, Plaisier, Emmanuelle, Berard, Etienne, Fakhouri, Fadi, Louillet, Ferielle, Finielz, Paul, Fischbach, Michel, Foliguet, Bernard, Francois-Pradier, Hélène, Garaix, Florentine, Gerard, Marion, Rizzoni, Gianfranco, Gilbert, Brigitte, Glotz, Denis, Dubrasquet, Astrid Godron, Grünfeld, Jean-Pierre, Bollee, Guillaume, Hall, Michelle, Hansson, Sverker, Haye, Damien, Taffin, Hélène, Hildebrandt, Friedhelm, Hourmand, Maryvonne, Kayserili, Hümya, Tack, Ivan, Jacquemont, Marie Line, Fabre-Teste, Jennifer, Kashtan, Cliff, Van Hoeck, Kkoen, Klein, Alexandre, Knefati, Yannick, Knoers, Nine, Konrad, Martin, Lachaux, Alain, Landru, Isabelle, Landthaler, Gilbert, Lang, Philippe, Le Pogamp, Patrick, Legris, Tristan, Didailler, Catherine, Lobbedez, Thierry, de Parscau, Loïc, Pinson, Lucile, Maheut, Hervé, Duval-Arnould, Marc, Rio, Marlène, Gubler, Marie-Claire, Merville, Pierre, Mestrallet, Guillaume, Meunier, Maite, Moreau, Karine, Harambat, Jérôme, Morgan, Graeme, Mourad, Georges, Stuber, Niksic, Boespflug-Tanguy, Odile, Dunand, Olivier, Niel, Olivier, Ouali, Nacera, Malvezzi, Paolo, Jaoude, Pauline Abou, Pelletier, Solenne, Peltier, Julie, Petersen, M.B., Michel, Philippe, Rémy, Philippe, Philit, Jean-Baptiste, Pichault, Valérie, Billette de Villemeur, Thierry, Boudailliez, Bernard, Leheup, Bruno, Dossier, Claire, Djeddi, Djamal-Dine, Berland, Yves, Hurault de Ligny, Bruno, Rigden, Susan, Robino, Christophe, Rossi, Annick, Sarnacki, Sabine, Saidani, Messaoud, Sartorius, Albane Brodin, Schäfer, Elise, Laszlo, Sztriha, Thouret, Marie-Christine, Thuillier-Lecouf, Angélique, Trachtman, Howard, Trivin, Claire, Tsimaratos, Michel, Van Damme-Lombaerts, Rita, Willems, Marjolaine, Youssef, Michel, Zaloszyc, Ariane, Zawodnik, Alexis, Ziliotis, Marie-Julia, Petzold, Friederike, Billot, Katy, Chen, Xiaoyi, Henry, Charline, Filhol, Emilie, Martin, Yoann, Avramescu, Marina, Douillet, Maxime, Morinière, Vincent, Krug, Pauline, Jeanpierre, Cécile, Tory, Kalman, Boyer, Olivia, Burgun, Anita, Servais, Aude, Salomon, Remi, Benmerah, Alexandre, Heidet, Laurence, Garcelon, Nicolas, Antignac, Corinne, Zaidan, Mohamad, and Saunier, Sophie

Published
2023
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3. Benign and malignant proliferation in idiopathic nephrotic syndrome: a French cohort study

Author

Cébron, Clara, Godron-Dubrasquet, Astrid, Aladjidi, Nathalie, Roussey, Gwenaelle, Boyer, Olivia, Avramescu, Marina, and Baudouin, Veronique

Subjects
Children -- Diseases, Nephrotic syndrome -- Diagnosis -- Care and treatment, Health
Abstract

Background There seems to be a possible link between nephrotic syndrome (NS) and lymphoproliferative syndrome, but it remains poorly understood. Methods This multicentric and retrospective study focuses on children, who developed idiopathic NS and malignant or benign proliferation between 2000 and 2021. Results Eleven patients were included, with a median age of 4 years. Only one had a steroid-resistant nephrotic syndrome (SRNS). The maintenance therapy before the proliferation was in majority tacrolimus or mycophenolate mofetil (MMF), but three patients did not receive treatments. The proliferation was mainly a Hodgkin's lymphoma (45%) or a lymphoproliferative disease (36%), in a median time after the NS of two years. Viruses were found in seven cases (EBV in five cases and HHV-8 in two). Conclusion The association between proliferative syndrome and idiopathic NS may not be fortuitous, possibly with a common lymphocytic disturbance. Genetic analyses could improve the comprehension of these manifestations in the future. Graphical abstract A higher resolution version of the Graphical abstract is available as Supplementary information, Author(s): Clara Cébron [sup.1] [sup.2] , Astrid Godron-Dubrasquet [sup.3] , Nathalie Aladjidi [sup.4] , Gwenaelle Roussey [sup.5] , Olivia Boyer [sup.6] , Marina Avramescu [sup.6] , Veronique Baudouin [sup.7] , [...]

Published
2022
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5. Social Deprivation Is Associated With Lower Access to Pre-emptive Kidney Transplantation and More Urgent-Start Dialysis in the Pediatric Population

Author

Driollet, Bénédicte, Bayer, Florian, Kwon, Theresa, Krid, Saoussen, Ranchin, Bruno, Tsimaratos, Michel, Parmentier, Cyrielle, Novo, Robert, Roussey, Gwenaelle, Tellier, Stéphanie, Fila, Marc, Zaloszyc, Ariane, Godron-Dubrasquet, Astrid, Cloarec, Sylvie, Vrillon, Isabelle, Broux, Françoise, Bérard, Etienne, Taque, Sophie, Pietrement, Christine, Nobili, François, Guigonis, Vincent, Launay, Ludivine, Couchoud, Cécile, Harambat, Jérôme, and Leffondré, Karen

Published
2022
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9. Mutation affecting the conserved acidic WNK1 motif causes inherited hyperkalemic hyperchloremic acidosis

Author

Louis-Dit-Picard, Helene, Kouranti, Ilektra, Rafael, Chloe, Loisel-Ferreira, Irmine, Chavez-Canales, Maria, Abdel-Khalek, Waed, Argaiz, Eduardo R., Baron, Stephanie, Vacle, Sarah, Migeon, Tiffany, Coleman, Richard, Do Cruzeiro, Marcio, Hureaux, Marguerite, Thurairajasingam, Nirubiah, Decramer, Stephane, Girerd, Xavier, O'Shaugnessy, Kevin, Mulatero, Paolo, Roussey, Gwenaelle, Tack, Ivan, Unwin, Robert, Vargas-Poussou, Rosa, Staub, Olivier, Grimm, Richard, Welling, Paul A., Gamba, Gerardo, Clauser, Eric, Hadchouel, Juliette, and Jeunemaitre, Xavier

Subjects
Gene mutations -- Health aspects, Protein kinases -- Genetic aspects -- Health aspects, Kidney tubules -- Physiological aspects -- Health aspects, Acidosis -- Genetic aspects -- Causes of -- Models, Health care industry
Abstract

Gain-of-function mutations in with no lysine (K)1 (WNK1) and WNK4genes are responsible for familial hyperkalemic hypertension (FHHt), a rare, inherited disorder characterized by arterial hypertension and hyperkalemia with metabolic acidosis. More recently, FHHt-causing mutations in the Kelch-like 3-Cullin 3 (KLHL3-CUL3) E3 ubiquitin ligase complex have shed light on the importance of WNK's cellular degradation on renal ion transport. Using full exome sequencing for a 4-generation family and then targeted sequencing in other suspected cases, we have identified new missense variants in the WNK1 gene clustering in the short conserved acidic motif known to interact with the KLHL3-CUL3 ubiquitin complex. Affected subjects had an early onset of a hyperkalemic hyperchloremic phenotype, but normal blood pressure values' Functional experiments in Xenopus laevis oocytes and HEK293T cells demonstrated that these mutations strongly decrease the ubiquitination of the kidney-specific isoform KS-WNK1 by the KLHL3-CUL3 complex rather than the long ubiquitous catalytically active L-WNK1 isoform. A corresponding CRISPR/Cas9 engineered mouse model recapitulated both the clinical and biological phenotypes. Renal investigations showed increased activation of the Ste20 proline alanine-rich kinase-[Na.sup.+]-[Cl.sup.-] cotransporter (SPAK-NCC) phosphorylation cascade, associated with impaired ROMK apical expression in the distal part of the renal tubule. Together, these new WNK1 genetic variants highlight the importance of the KS-WNK1 isoform abundance on potassium homeostasis., Introduction Familial hyperkalemic hypertension (FHHt), also known as Gordon syndrome and pseudohypoaldosteronism type 2, is a rare disease associated with net positive [Na.sup.+] balance and renal [K.sup.+] retention resulting in [...]

Published
2020
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10. School level of children carrying a HNF1B variant or a deletion

Author

Laliève, Fanny, Decramer, Stéphane, Heidet, Laurence, Baudouin, Véronique, Lahoche, Annie, Llanas, Brigitte, Cochat, Pierre, Tenenbaum, Julie, Lavocat, Marie-Pierre, Eckart, Philippe, Broux, Françoise, Roussey, Gwenaelle, Cloarec, Sylvie, Vrillon, Isabelle, Dunand, Olivier, Bessenay, Lucie, Tsimaratos, Michel, Nobili, François, Pietrement, Christine, De Parscau, Loïc, Bonneville, Valérie, Rodier, Nicolas, Saint-Martin, Cécile, Chassaing, Nicolas, Michel-Calemard, Laurence, Moriniere, Vincent, Bellanné-Chantelot, Christine, Bahans, Claire, and Guigonis, Vincent

Published
2020
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11. Kidney Transplantation in Small Children: Association Between Body Weight and Outcome—A Report From the ESPN/ERA-EDTA Registry

Author

Boehm, Michael, Bonthuis, Marjolein, Aufricht, Christoph, Battelino, Nina, Bjerre, Anna, Edvardsson, Vidar O., Herthelius, Maria, Hubmann, Holger, Jahnukainen, Timo, de Jong, Huib, Laube, Guido F., Mattozzi, Francesca, Molchanova, Elena A., Muñoz, Marina, Noyan, Aytul, Pape, Lars, Printza, Nikoleta, Reusz, George, Roussey, Gwenaelle, Rubik, Jacek, Spasojevicʼ-Dimitrijeva, Brankica, Seeman, Tomas, Ware, Nicholas, Vidal, Enrico, Harambat, Jérôme, Jager, Kitty J., and Groothoff, Jaap

Published
2022
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12. Preemptive Kidney Transplantation Is Associated With Transplantation Outcomes in Children: Results From the French Kidney Replacement Therapy Registry

Author

Prezelin-Reydit, Mathilde, Madden, Iona, Macher, Marie-Alice, Salomon, Rémi, Sellier-Leclerc, Anne-Laure, Roussey, Gwenaelle, Lahoche, Annie, Garaix, Florentine, Decramer, Stéphane, Ulinski, Tim, Fila, Marc, Dunand, Olivier, Merieau, Elodie, Pongas, Marios, Zaloszyc, Ariane, Baudouin, Véronique, Bérard, Etienne, Couchoud, Cécile, Leffondré, Karen, and Harambat, Jérôme

Published
2022
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13. The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies.

Author

Petzold, Friederike, primary, Billot, Katy, additional, Chen, Xiaoyi, additional, Henry, Charline, additional, Filhol, Emilie, additional, Martin, Yoann, additional, Avramescu, Marina, additional, Douillet, Maxime, additional, Morinière, Vincent, additional, Krug, Pauline, additional, Jeanpierre, Cécile, additional, Tory, Kalman, additional, Boyer, Olivia, additional, Burgun, Anita, additional, Servais, Aude, additional, Salomon, Remi, additional, Benmerah, Alexandre, additional, Heidet, Laurence, additional, Garcelon, Nicolas, additional, Antignac, Corinne, additional, Zaidan, Mohamad, additional, Saunier, Sophie, additional, Attié-Bitach, Tania, additional, Comier-Daire, Valerie, additional, Rozet, Jean-Michel, additional, Frishberg, Yaacov, additional, Llanas, Brigitte, additional, Broyer, Michel, additional, Mohsin, Nabil, additional, Macher, Marie-Alice, additional, Philip, Nicole, additional, Baudouin, Véronique, additional, Brackman, Damian, additional, Loirat, Chantal, additional, Charbit, Marina, additional, Dehennault, Maud, additional, Guyot, Claude, additional, Bataille, Pierre, additional, Elting, Mariet, additional, Deschenes, Georges, additional, Gropman, Andrea, additional, Guest, Geneviève, additional, Gagnadoux, Marie-France, additional, Nicoud, Philippe, additional, Cochat, Pierre, additional, Ranchin, Bruno, additional, Bensman, Albert, additional, Guerrot, Anne-Marie, additional, Knebelmann, Bertrand, additional, Bilge, Ilmay, additional, Bruno, Danièle, additional, Burtey, Stéphane, additional, Rouvière, Caroline Rousset, additional, Caudwell, Valérie, additional, Morin, Denis, additional, Dollfus, Hélène, additional, Maisin, Anne, additional, Hamel, Christian, additional, Bieth, Eric, additional, Gie, Sophie, additional, Goodship, Judith, additional, Roussey, Gwenaelle, additional, La Selve, Hermine, additional, Nivet, Hubert, additional, Bessenay, Lucie, additional, Caillez, Mathilde, additional, Palcoux, Jean Bernard, additional, Benoît, Stéphane, additional, Dubot, Philippe, additional, Fila, Marc, additional, Giuliano, Fabienne, additional, Iftene, Daouya, additional, Kessler, Michele, additional, Kwon, Theresa, additional, Lahoche, Anine, additional, Laurent, Audrey, additional, Leclerc, Anne-Laure, additional, Milford, David, additional, Neuhaus, Thomas, additional, Odent, Sylvie, additional, Eckart, Philippe, additional, Chauveau, Dominique, additional, Niaudet, Patrick, additional, Repetto, Horacio, additional, Taque, Sophie, additional, Bruel, Alexandra, additional, Noel-Botte, Alexandra, additional, Launay, Emma Allain, additional, Allard, Lisa, additional, Anlicheau, Dany, additional, Adra, Anne-Laure, additional, Garnier, Arnaud, additional, Nagra, Arvind, additional, Baatard, Remy, additional, Bacchetta, Justine, additional, Sadikoglu, Banu, additional, Barnerias, Christine, additional, Barthelemy, Anne, additional, Basel, Lina, additional, Bassilios, Nader, additional, Ben Maiz, Hedi, additional, Ben Moussa, Fatma, additional, Benmati, Faïza, additional, Berthaud, Romain, additional, Bertholet, Aurélia, additional, Blanchier, Dominique, additional, Boffa, Jean Jacques, additional, Bouchireb, Karim, additional, Bouhabel, Ihab, additional, Boukerroucha, Zakaria, additional, Bourdat-Michel, Guylhène, additional, Boute, Odile, additional, Brochard, Karine, additional, Caumes, Roseline, additional, Elalaoui, Siham Chafai, additional, Chamontin, Bernard, additional, Chastang, Marie Caroline, additional, Pietrement, Christine, additional, Richer, Christine, additional, Legendre, Christophe, additional, Dahan, Karin, additional, Dalla-Vale, Fabienne, additional, Thibaudin, Damien, additional, Dauvergne, Maxime, additional, Davourie, Salandre, additional, Debeukelaer, Martin, additional, Delbet, Jean Daniel, additional, Deltas, Constantinos, additional, Graber, Denis, additional, Devillars, Nadège, additional, Diouf, Boucar, additional, Fenzy, Martine Doco, additional, André, Jean-Luc, additional, Joly, Dominique, additional, Fryer, Alan, additional, Albano, Laetitia, additional, Cassuto, Elisabeth, additional, Pincon, Aline, additional, Medeira, Ana, additional, Chaussenot, Annabelle, additional, Mensire-Marinier, Anne, additional, Bouissou, Francois, additional, Decramer, Stephane, additional, Bottani, Armand, additional, Hummel, Aurélie, additional, Karras, Alexandre, additional, Katz, Avi, additional, Azema, Christine, additional, Janbon, Bénédicte, additional, Roussel, Bernard, additional, Bonniol, Claude, additional, Mariat, Christiophe, additional, Champion, Gérard, additional, Chantreuil, Deborah, additional, Chassaing, Nicolas, additional, Mousson, Christiane, additional, Baudeau, Christine, additional, Cuntz, Delphine Hafdar, additional, Mignot, Cyril, additional, Dehoux, Laurene, additional, Lacombe, Didier, additional, Hannedouche, Thierry, additional, Mérieau, Elodie, additional, Charlin, Emmanuelle, additional, Gauthier, Eric, additional, Plasse, Florent, additional, Faguer, Stanislas, additional, Lebas, Fanny, additional, Demurger, Florence, additional, Emma, Francesco, additional, Cartault, François, additional, Dumont, Geneviève, additional, Godefroid, Nathalie, additional, Guigonis, Vincent, additional, Hillaire, Sophie, additional, Groothoff, Jaap, additional, Dudley, Jan, additional, Jourde-Chiche, Noémie, additional, El Karoui, Khalil, additional, Krid, Saoussen, additional, Coudert, Krier, additional, Bencheick, Larbi, additional, Yver, Laurent, additional, Lavocat, Marie-Pierre, additional, De Sagazan, Le Monies, additional, Leroy, Valerie, additional, Thibaudin, Lise, additional, Ingulli, Liz, additional, Gwanmesia, Lorraine, additional, Burglen, Lydie, additional, Saïd-Menthon, Marie-Hélène, additional, Carrera, Marta, additional, Nizon, Mathilde, additional, Melander, Catherine, additional, Foulard, Michel, additional, Blayo, Monique, additional, Prinseau, Jacques, additional, Jay, Nadine, additional, Brun, Nathalie, additional, Camille, Nicolas, additional, Nobili, François, additional, Devuyst, Olivier, additional, Ben Brahim, Ouafa, additional, Parvex, Paloma, additional, Sabourin, Laurence Perrin, additional, Blanc, Philippe, additional, Vanhille, Philippe, additional, Galichon, Pierre, additional, Pierrepont, Sophie, additional, Planquois, Vincent, additional, Poussard, Gwenaelle, additional, Noble, Claire Pouteil, additional, Allal, Radia, additional, Bernard, Raphaelle, additional, Mounet, Raynaud, additional, Cahen, Rémi, additional, Touraine, Renaud, additional, Rigothier, Claire, additional, Ryckewaert, Amélie, additional, Sacquepee, Mathieu, additional, El Chehadeh, Salima, additional, Samaille, Charlotte, additional, Haq, Shuman, additional, Simckes, Ari, additional, Lanoiselée, Stéphanie, additional, Tellier, Stephanie, additional, Subra, Jean-François, additional, Cloarec, Sylvie, additional, Tenenbam, Julie, additional, Lamy, Thomas, additional, Drouin Garraud, Valérie, additional, Valette, Huguette, additional, Meyssonnier, Vanina, additional, Vargas-Poussou, Rosa, additional, Snajer, Yves, additional, Durault, Sandrine, additional, Plaisier, Emmanuelle, additional, Berard, Etienne, additional, Fakhouri, Fadi, additional, Louillet, Ferielle, additional, Finielz, Paul, additional, Fischbach, Michel, additional, Foliguet, Bernard, additional, Francois-Pradier, Hélène, additional, Garaix, Florentine, additional, Gerard, Marion, additional, Rizzoni, Gianfranco, additional, Gilbert, Brigitte, additional, Glotz, Denis, additional, Dubrasquet, Astrid Godron, additional, Grünfeld, Jean-Pierre, additional, Bollee, Guillaume, additional, Hall, Michelle, additional, Hansson, Sverker, additional, Haye, Damien, additional, Taffin, Hélène, additional, Hildebrandt, Friedhelm, additional, Hourmand, Maryvonne, additional, Kayserili, Hümya, additional, Tack, Ivan, additional, Jacquemont, Marie Line, additional, Fabre-Teste, Jennifer, additional, Kashtan, Cliff, additional, Van Hoeck, Kkoen, additional, Klein, Alexandre, additional, Knefati, Yannick, additional, Knoers, Nine, additional, Konrad, Martin, additional, Lachaux, Alain, additional, Landru, Isabelle, additional, Landthaler, Gilbert, additional, Lang, Philippe, additional, Le Pogamp, Patrick, additional, Legris, Tristan, additional, Didailler, Catherine, additional, Lobbedez, Thierry, additional, de Parscau, Loïc, additional, Pinson, Lucile, additional, Maheut, Hervé, additional, Duval-Arnould, Marc, additional, Rio, Marlène, additional, Gubler, Marie-Claire, additional, Merville, Pierre, additional, Mestrallet, Guillaume, additional, Meunier, Maite, additional, Moreau, Karine, additional, Harambat, Jérôme, additional, Morgan, Graeme, additional, Mourad, Georges, additional, Stuber, Niksic, additional, Boespflug-Tanguy, Odile, additional, Dunand, Olivier, additional, Niel, Olivier, additional, Ouali, Nacera, additional, Malvezzi, Paolo, additional, Abou Jaoude, Pauline, additional, Pelletier, Solenne, additional, Peltier, Julie, additional, Petersen, M.B., additional, Michel, Philippe, additional, Rémy, Philippe, additional, Philit, Jean-Baptiste, additional, Pichault, Valérie, additional, Billette de Villemeur, Thierry, additional, Boudailliez, Bernard, additional, Leheup, Bruno, additional, Dossier, Claire, additional, Djeddi, Djamal-Dine, additional, Berland, Yves, additional, Hurault de Ligny, Bruno, additional, Rigden, Susan, additional, Robino, Christophe, additional, Rossi, Annick, additional, Sarnacki, Sabine, additional, Saidani, Messaoud, additional, Sartorius, Albane Brodin, additional, Schäfer, Elise, additional, Laszlo, Sztriha, additional, Thouret, Marie-Christine, additional, Thuillier-Lecouf, Angélique, additional, Trachtman, Howard, additional, Trivin, Claire, additional, Tsimaratos, Michel, additional, Van Damme-Lombaerts, Rita, additional, Willems, Marjolaine, additional, Youssef, Michel, additional, Zaloszyc, Ariane, additional, Zawodnik, Alexis, additional, and Ziliotis, Marie-Julia, additional

Published
2023
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14. Valganciclovir is not associated with decreased EBV infection rate in pediatric kidney transplantation

Author

Cheyssac, Elodie, primary, Savadogo, Hamidou, additional, Lagoutte, Nathan, additional, Baudouin, Véronique, additional, Charbit, Marina, additional, Novo, Robert, additional, Sellier-Leclerc, Anne-Laure, additional, Fila, Marc, additional, Decramer, Stéphane, additional, Merieau, Elodie, additional, Zaloszyc, Ariane, additional, Harambat, Jérôme, additional, and Roussey, Gwenaelle, additional

Published
2023
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15. Effect of center practices on the choice of the first dialysis modality for children and young adults

Author

Hogan, Julien, Ranchin, Bruno, Fila, Marc, Harambat, Jérome, Krid, Saoussen, Vrillon, Isabelle, and Roussey, Gwenaelle

Subjects
Continuous ambulatory peritoneal dialysis -- Methods -- Demographic aspects, Peritoneal dialysis -- Methods -- Demographic aspects, Decision-making -- Health aspects, Hemodialysis patients -- Demographic aspects, Health
Abstract

Background Peritoneal dialysis (PD) remains the modality of choice in children, but there is no clear evidence to support a better outcome in children treated with PD. We aimed to assess factors that have an impact on the choice of dialysis modality in children and young adults in France and sought to determine the roles of medical factors and center practices. Methods We included all patients aged Results We included 806 patients starting RRT in 177 centers, 23 of which were specialized pediatric centers. Six hundred and one patients (74.6 %) started with hemodialysis (HD), whereas 205 (25.4 %) started with PD. A greater probability of PD was found in younger children, whereas starting the treatment in an emergency setting was associated with a low use of PD. We found a significant variability among centers that accounted for 43 % of the total variability. The probability of PD was higher in adult centers and was proportional to the rate of PD in the center. Conclusions Center practices are a major factor in the choice of dialysis modality. This raises concerns about patient and family choices and to what extent doctors may influence the final decision. Further pediatric studies focusing on children's and parents' wishes are needed to provide care as close as possible to patients' and families' expectations., Author(s): Julien Hogan [sup.1] [sup.2] , Bruno Ranchin [sup.3] , Marc Fila [sup.4] , Jérome Harambat [sup.5] , Saoussen Krid [sup.6] , Isabelle Vrillon [sup.7] , Gwenaelle Roussey [sup.8] , [...]

Published
2017
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17. Kidney Transplantation in Small Children: Association Between Body Weight and Outcome—A Report From the ESPN/ERA-EDTA Registry

Author

Boehm, Michael, primary, Bonthuis, Marjolein, additional, Aufricht, Christoph, additional, Battelino, Nina, additional, Bjerre, Anna, additional, Edvardsson, Vidar O., additional, Herthelius, Maria, additional, Hubmann, Holger, additional, Jahnukainen, Timo, additional, de Jong, Huib, additional, Laube, Guido F., additional, Mattozzi, Francesca, additional, Molchanova, Elena A., additional, Muñoz, Marina, additional, Noyan, Aytul, additional, Pape, Lars, additional, Printza, Nikoleta, additional, Reusz, George, additional, Roussey, Gwenaelle, additional, Rubik, Jacek, additional, Spasojevic'-Dimitrijeva, Brankica, additional, Seeman, Tomas, additional, Ware, Nicholas, additional, Vidal, Enrico, additional, Harambat, Jérôme, additional, Jager, Kitty J., additional, and Groothoff, Jaap, additional

Published
2021
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18. Preemptive Kidney Transplantation Is Associated With Transplantation Outcomes in Children: Results From the French Kidney Replacement Therapy Registry

Author

Prezelin-Reydit, Mathilde, primary, Madden, Iona, additional, Macher, Marie-Alice, additional, Salomon, Rémi, additional, Sellier-Leclerc, Anne-Laure, additional, Roussey, Gwenaelle, additional, Lahoche, Annie, additional, Garaix, Florentine, additional, Decramer, Stéphane, additional, Ulinski, Tim, additional, Fila, Marc, additional, Dunand, Olivier, additional, Merieau, Elodie, additional, Pongas, Marios, additional, Zaloszyc, Ariane, additional, Baudouin, Véronique, additional, Bérard, Etienne, additional, Couchoud, Cécile, additional, Leffondré, Karen, additional, and Harambat, Jérôme, additional

Published
2021
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21. School level of children carrying a HNF1B variant or a deletion

Author

Laliève, Fanny, primary, Decramer, Stéphane, additional, Heidet, Laurence, additional, Baudouin, Véronique, additional, Lahoche, Annie, additional, Llanas, Brigitte, additional, Cochat, Pierre, additional, Tenenbaum, Julie, additional, Lavocat, Marie-Pierre, additional, Eckart, Philippe, additional, Broux, Françoise, additional, Roussey, Gwenaelle, additional, Cloarec, Sylvie, additional, Vrillon, Isabelle, additional, Dunand, Olivier, additional, Bessenay, Lucie, additional, Tsimaratos, Michel, additional, Nobili, François, additional, Pietrement, Christine, additional, De Parscau, Loïc, additional, Bonneville, Valérie, additional, Rodier, Nicolas, additional, Saint-Martin, Cécile, additional, Chassaing, Nicolas, additional, Michel-Calemard, Laurence, additional, Moriniere, Vincent, additional, Bellanné-Chantelot, Christine, additional, Bahans, Claire, additional, and Guigonis, Vincent, additional

Published
2019
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22. Social deprivation is associated with poor kidney transplantation outcome in children

Author

Driollet, Bénédicte, primary, Bayer, Florian, additional, Chatelet, Valérie, additional, Macher, Marie-Alice, additional, Salomon, Rémi, additional, Ranchin, Bruno, additional, Roussey, Gwenaelle, additional, Lahoche, Annie, additional, Garaix, Florentine, additional, Decramer, Stéphane, additional, Mérieau, Elodie, additional, Fila, Marc, additional, Zaloszyc, Ariane, additional, Deschênes, Georges, additional, Valeri, Linda, additional, Launay, Ludivine, additional, Couchoud, Cécile, additional, Leffondré, Karen, additional, and Harambat, Jérôme, additional

Published
2019
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23. Quality of life in adolescents with chronic kidney disease who initiate haemodialysis treatment

Author

Clavé, Stéphanie, primary, Tsimaratos, Michel, additional, Boucekine, Mohamed, additional, Ranchin, Bruno, additional, Salomon, Rémi, additional, Dunand, Olivier, additional, Garnier, Arnaud, additional, Lahoche, Annie, additional, Fila, Marc, additional, Roussey, Gwenaelle, additional, Broux, Francoise, additional, Harambat, Jérome, additional, Cloarec, Sylvie, additional, Menouer, Soraya, additional, Deschenes, Georges, additional, Vrillon, Isabelle, additional, Auquier, Pascal, additional, and Berbis, Julie, additional

Published
2019
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25. Patient and transplant outcome in infants starting renal replacement therapy before 2 years of age

Author

Hogan, Julien, Bacchetta, Justine, Charbit, Marina, Roussey, Gwenaelle, Novo, Robert, Tsimaratos, Michel, Terzic, Joelle, Ulinski, Tim, Garnier, Arnaud, Merieau, Elodie, Harambat, Jérôme, Vrillon, Isabelle, Dunand, Olivier, Morin, Denis, Berard, Etienne, Nobili, Francois, Couchoud, Cécile, Macher, Marie-Alice, Society, French Pediatric Nephrology, Agence de la biomédecine [Saint-Denis la Plaine], AP-HP Hôpital universitaire Robert-Debré [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Hôpital Femme Mère Enfant [CHU - HCL] (HFME), Hospices Civils de Lyon (HCL), Service de néphrologie pédiatrique [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Centre hospitalier universitaire de Nantes (CHU Nantes), Hôpital Jeanne de Flandre [Lille], Hôpital de la Timone [CHU - APHM] (TIMONE), Hôpital de Hautepierre [Strasbourg], CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), CHU Toulouse [Toulouse], Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Centre de Référence du Sud Ouest des Maladies Rénales Rares, CHU Toulouse [Toulouse]-Hôpital des Enfants, CIC Bordeaux, Université Bordeaux Segalen - Bordeaux 2-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Centre hospitalier Félix-Guyon [Saint-Denis, La Réunion], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Service de pédiatrie [CHRU Besançon], Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), Biostatistiques santé, Département biostatistiques et modélisation pour la santé et l'environnement [LBBE], Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Régional Universitaire de Tours (CHRU TOURS), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Bordeaux population health (BPH), and Université de Bordeaux (UB)-Institut de Santé Publique, d'Épidémiologie et de Développement (ISPED)-Institut National de la Santé et de la Recherche Médicale (INSERM)

Subjects
Male, Pediatrics, medicine.medical_specialty, medicine.medical_treatment, [SDV]Life Sciences [q-bio], 030232 urology & nephrology, 030230 surgery, Kidney Failure, 03 medical and health sciences, 0302 clinical medicine, Interquartile range, Renal Dialysis, Medicine, Humans, Renal replacement therapy, Registries, Chronic, Survival rate, Dialysis, Kidney transplantation, Transplantation, business.industry, Hazard ratio, Graft Survival, Infant, medicine.disease, Kidney Transplantation, 3. Good health, Survival Rate, Nephrology, Kidney Failure, Chronic, Female, Hemodialysis, France, business, Follow-Up Studies
Abstract

International audience; Background: Despite major technical improvements in the care of children requiring renal replacement therapy (RRT) before 2 years of age, the management of those patients remains challenging and transplantation is generally delayed until the child weighs 10 kg or is 2 years old. In this national cohort study, we studied patient and graft survival in children starting RRT before 2 years of age to help clinicians and parents when deciding on RRT initiation and transplantation management. Methods: All children starting RRT before 24 months of age between 1992 and 2012 in France were included through the national Renal Epidemiology and Information Network (REIN) registry. The primary endpoints were patient survival on dialysis and 10-year graft survival. Results: A total of 224 patients were included \62% boys, median age 10.5 months [interquartile range (IQR) 5.8-15.6]\. The 10-year survival rate was 84% (IQR 77-89). Suffering from extrarenal comorbidities was the only factor significantly associated with both an increased risk of death on dialysis [hazard ratio 5.9 (95% confidence interval 1.8-19.3)] and a decreased probability of being transplanted. During follow-up, 174 renal transplantations were performed in 171 patients [median age at first transplantation 30.2 (IQR 21.8-40.7) months]. The 10-year graft survival was 74% (IQR 67-81). Factors associated with graft loss in multivariate analysis were the time spent on dialysis before transplantation, donor/recipient height ratio with an increased risk for both small and tall donors and presenting two human leucocyte antigen-antigen D-related mismatches. Conclusions: This study confirms the good outcome of children starting RRT before 2 years of age. The main question remains when and how to transplant those children. Our study provides data on the optimal morphological and immunological matching in order to help clinicians in their decisions.

Published
2017
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27. Population pharmacokinetics and pharmacogenetics of mycophenolic acid following administration of mycophenolate mofetil in de novo pediatric renal-transplant patients

Author

Wei Zhao, Fakhoury, May, Deschenes, Georges, Roussey, Gwenaelle, Brochard, Karine, Niaudet, Patrick, Tsimaratos, Michel, Andre, Jean Luc, Cloarec, Sylvie, Cochat, Pierre, Bensman, Albert, Azougagh, Said, and Jacqz-Aigrain, Evelyne

Subjects
Mycophenolate mofetil -- Dosage and administration, Mycophenolate mofetil -- Research, Patients -- Health aspects, Pharmacokinetics -- Analysis, Kidneys -- Transplantation, Kidneys -- Research, Health
Published
2010

28. Liste des collaborateurs

Author

Bacchetta, Justine, Boyer, Olivia, Adonis-Koffy, Laurence Ya, Allain-Launay, Emma, Allard, Lise, Audard, Vincent, Baudin, Florent, Baudouin, Véronique, Beauvais, Anne, Belot, Alexandre, Bensman, Albert, Bérard, Étienne, Berteloot, Laureline, Berthaud, Romain, Bertholet-Thomas, Aurélia, Bertocchio, Jean-Philippe, Biebuyck, Nathalie, Bonnefoy, Catherine, Botto, Nathalie, Boubred, Farid, Bowman, Lucie, Broux, Françoise, Cailliez, Mathilde, Cambier, Alexandra, Capito, Carmen, Charbit, Marina, Chardot, Christophe, Claris, Olivier, Clavé, Stéphanie, Cochat, Pierre, Collard, Laure, Coste, Marie-Édith, Dalodier, Emmeline, Demède, Delphine, Deschênes, Georges, Dijoud, Frédérique, Dossier, Claire, Dubourg, Laurence, Exantus, Judith, Fargue, Sonia, Fila, Marc, Frémeaux-Bacchi, Véronique, Garaix, Florentine, Garnier, Charlotte, Gillet, Yves, Gonçalves, David, Gubler, Marie-Claire, Guigonis, Vincent, Harambat, Jérôme, Hazan, Myriam, Heidet, Laurence, Hogan, Julien, Hureaux, Marguerite, Iacobelli, Sylvia, Jamin, Agnès, Jouret, François, Keller-Petrot, Isabelle, Kohaut, Jules, Krid, Saoussen, Krug-Tricot, Pauline, Kwon, Theresa, de Labriolle-Vaylet, Claire, Lachaux, Alain, Launay, Élise, Lemoine, Sandrine, Linglart, Agnès, Manucci-Lahoche, Annie, Massardier, Jérôme, Mekahli, Djalila, Morin, Denis, Nathanson, Sylvie, Naud, Corentin, Nobili, François, Novo, Robert, de Parscau, Loïc, Parvex, Paloma, Perrin, Justine, Picard, Cécile, Piètrement, Christine, Putoux, Audrey, Rabant, Marion, Ranchin, Bruno, Robert, Thomas, Rousset-Rouvière, Caroline, Roussey, Gwenaelle, Ryckewaert, Amélie, Salomon, Rémi, Sellier-Leclerc, Anne-Laure, Sérusclat, André, Tanné, Corentin, Thaunat, Olivier, Tsimaratos, Michel, Ulinski, Tim, Vargas-Poussou, Rosa, Vrillon, Isabelle, Zaloszyc, Ariane, and Zennaro, Maria Christina

Published
2020
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29. Calcineurin Inhibitors Downregulate HNF-1β and May Affect the Outcome of HNF1B Patients After Renal Transplantation

Author

Faguer, Stanislas, Esposito, Laure, Casemayou, Audrey, Pirson, Yves, Decramer, Stéphane, Cartery, Claire, Hazzan, Marc, Garrigue, Valérie, Roussey, Gwenaelle, Cointault, Olivier, Ho, Thien, Merville, Pierre, Devuyst, Olivier, Gourdy, Pierre, Chassaing, Nicolas, Bascands, Jean-Loup, Kamar, Nassim, Schanstra, Joost-Peter, Rostaing, Lionel, Chauveau, Dominique, University of Zurich, and Faguer, Stanislas

Subjects
2747 Transplantation, 10076 Center for Integrative Human Physiology, 570 Life sciences, biology, 610 Medicine & health, 10052 Institute of Physiology
Published
2016

30. Functional Characterization of Anti-C3bBb Autoantibodies and C3 Glomerulopathy Phenotype

Author

Roquigny, Julia, Meuleman, Marie-Sophie, El Sissy, Carine, Cailliez, Mathilde, Servais, Aude, Roussey, Gwenaelle, Baudouin, Véronique, Decramer, Stéphane, Nobili, François, Wynckel, Alain, Sellier Leclerc, Anne-Laure, Lapeyraque, Anne-Laure, Martins, Paula Vieira, Meri, Seppo, Dragon-Durey, Marie-Agnès, Chauvet, Sophie, and Frémeaux-Bacchi, Véronique

Published
2024
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33. Calcineurin Inhibitors Downregulate HNF-1β and May Affect the Outcome of HNF1B Patients After Renal Transplantation

Author

Faguer, Stanislas, primary, Esposito, Laure, additional, Casemayou, Audrey, additional, Pirson, Yves, additional, Decramer, Stéphane, additional, Cartery, Claire, additional, Hazzan, Marc, additional, Garrigue, Valérie, additional, Roussey, Gwenaelle, additional, Cointault, Olivier, additional, Ho, Thien, additional, Merville, Pierre, additional, Devuyst, Olivier, additional, Gourdy, Pierre, additional, Chassaing, Nicolas, additional, Bascands, Jean-Loup, additional, Kamar, Nassim, additional, Schanstra, Joost-Peter, additional, Rostaing, Lionel, additional, and Chauveau, Dominique, additional

Published
2016
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34. Comprehensive PKD1 and PKD2 Mutation Analysis in Prenatal Autosomal Dominant Polycystic Kidney Disease

Author

Audrézet, Marie-Pierre, primary, Corbiere, Christine, additional, Lebbah, Said, additional, Morinière, Vincent, additional, Broux, Françoise, additional, Louillet, Ferielle, additional, Fischbach, Michel, additional, Zaloszyc, Ariane, additional, Cloarec, Sylvie, additional, Merieau, Elodie, additional, Baudouin, Véronique, additional, Deschênes, Georges, additional, Roussey, Gwenaelle, additional, Maestri, Sandrine, additional, Visconti, Chiara, additional, Boyer, Olivia, additional, Abel, Carine, additional, Lahoche, Annie, additional, Randrianaivo, Hanitra, additional, Bessenay, Lucie, additional, Mekahli, Djalila, additional, Ouertani, Ines, additional, Decramer, Stéphane, additional, Ryckenwaert, Amélie, additional, Cornec-Le Gall, Emilie, additional, Salomon, Rémi, additional, Ferec, Claude, additional, and Heidet, Laurence, additional

Published
2016
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35. Patient and transplant outcome in infants starting renal replacement therapy before 2 years of age.

Author

Hogan, Julien, Bacchetta, Justine, Charbit, Marina, Roussey, Gwenaelle, Novo, Robert, Tsimaratos, Michel, Terzic, Joelle, Ulinski, Tim, Garnier, Arnaud, and Merieau, Elodie

Subjects
INFANTS, KIDNEY transplantation, PEDIATRICS, KIDNEY diseases, EPIDEMIOLOGY
Abstract

Background Despite major technical improvements in the care of children requiring renal replacement therapy (RRT) before 2 years of age, the management of those patients remains challenging and transplantation is generally delayed until the child weighs 10 kg or is 2 years old. In this national cohort study, we studied patient and graft survival in children starting RRT before 2 years of age to help clinicians and parents when deciding on RRT initiation and transplantation management. Methods All children starting RRT before 24 months of age between 1992 and 2012 in France were included through the national Renal Epidemiology and Information Network (REIN) registry. The primary endpoints were patient survival on dialysis and 10-year graft survival. Results A total of 224 patients were included {62% boys, median age 10.5 months [interquartile range (IQR) 5.8–15.6]}. The 10-year survival rate was 84% (IQR 77–89). Suffering from extrarenal comorbidities was the only factor significantly associated with both an increased risk of death on dialysis [hazard ratio 5.9 (95% confidence interval 1.8–19.3)] and a decreased probability of being transplanted. During follow-up, 174 renal transplantations were performed in 171 patients [median age at first transplantation 30.2 (IQR 21.8–40.7) months]. The 10-year graft survival was 74% (IQR 67–81). Factors associated with graft loss in multivariate analysis were the time spent on dialysis before transplantation, donor/recipient height ratio with an increased risk for both small and tall donors and presenting two human leucocyte antigen–antigen D-related mismatches. Conclusions This study confirms the good outcome of children starting RRT before 2 years of age. The main question remains when and how to transplant those children. Our study provides data on the optimal morphological and immunological matching in order to help clinicians in their decisions. [ABSTRACT FROM AUTHOR]

Published
2018
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36. Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations.

Author

UCL - SSS/DDUV - Institut de Duve, Jaureguiberry, Graciana, De la Dure-Molla, Muriel, Parry, David, Quentric, Mickael, Himmerkus, Nina, Koike, Toshiyasu, Poulter, James, Klootwijk, Enriko, Robinette, Steven L, Howie, Alexander J, Patel, Vaksha, Figueres, Marie-Lucile, Stanescu, Horia C, Issler, Naomi, Nicholson, Jeremy K, Bockenhauer, Detlef, Laing, Christopher, Walsh, Stephen B, McCredie, David A, Povey, Sue, Asselin, Audrey, Picard, Arnaud, Coulomb, Aurore, Medlar, Alan J, Bailleul-Forestier, Isabelle, Verloes, Alain, Le Caignec, Cedric, Roussey, Gwenaelle, Guiol, Julien, Isidor, Bertrand, Logan, Clare, Shore, Roger, Johnson, Colin, Inglehearn, Christopher, Al-Bahlani, Suhaila, Schmittbuhl, Matthieu, Clauss, François, Huckert, Mathilde, Laugel, Virginie, Ginglinger, Emmanuelle, Pajarola, Sandra, Spartà, Giuseppina, Bartholdi, Deborah, Rauch, Anita, Addor, Marie-Claude, Yamaguti, Paulo M, Safatle, Heloisa P, Acevedo, Ana Carolina, Martelli-Júnior, Hercílio, dos Santos Netos, Pedro E, Coletta, Ricardo D, Gruessel, Sandra, Sandmann, Carolin, Ruehmann, Denise, Langman, Craig B, Scheinman, Steven J, Ozdemir-Ozenen, Didem, Hart, Thomas C, Hart, P Suzanne, Neugebauer, Ute, Schlatter, Eberhard, Houillier, Pascal, Gahl, William A, Vikkula, Miikka, Bloch-Zupan, Agnès, Bleich, Markus, Kitagawa, Hiroshi, Unwin, Robert J, Mighell, Alan, Berdal, Ariane, Kleta, Robert, UCL - SSS/DDUV - Institut de Duve, Jaureguiberry, Graciana, De la Dure-Molla, Muriel, Parry, David, Quentric, Mickael, Himmerkus, Nina, Koike, Toshiyasu, Poulter, James, Klootwijk, Enriko, Robinette, Steven L, Howie, Alexander J, Patel, Vaksha, Figueres, Marie-Lucile, Stanescu, Horia C, Issler, Naomi, Nicholson, Jeremy K, Bockenhauer, Detlef, Laing, Christopher, Walsh, Stephen B, McCredie, David A, Povey, Sue, Asselin, Audrey, Picard, Arnaud, Coulomb, Aurore, Medlar, Alan J, Bailleul-Forestier, Isabelle, Verloes, Alain, Le Caignec, Cedric, Roussey, Gwenaelle, Guiol, Julien, Isidor, Bertrand, Logan, Clare, Shore, Roger, Johnson, Colin, Inglehearn, Christopher, Al-Bahlani, Suhaila, Schmittbuhl, Matthieu, Clauss, François, Huckert, Mathilde, Laugel, Virginie, Ginglinger, Emmanuelle, Pajarola, Sandra, Spartà, Giuseppina, Bartholdi, Deborah, Rauch, Anita, Addor, Marie-Claude, Yamaguti, Paulo M, Safatle, Heloisa P, Acevedo, Ana Carolina, Martelli-Júnior, Hercílio, dos Santos Netos, Pedro E, Coletta, Ricardo D, Gruessel, Sandra, Sandmann, Carolin, Ruehmann, Denise, Langman, Craig B, Scheinman, Steven J, Ozdemir-Ozenen, Didem, Hart, Thomas C, Hart, P Suzanne, Neugebauer, Ute, Schlatter, Eberhard, Houillier, Pascal, Gahl, William A, Vikkula, Miikka, Bloch-Zupan, Agnès, Bleich, Markus, Kitagawa, Hiroshi, Unwin, Robert J, Mighell, Alan, Berdal, Ariane, and Kleta, Robert

Abstract

This autosomal recessive disorder, also known as enamel renal syndrome, of FAM20A causes nephrocalcinosis and amelogenesis imperfecta. We speculate that all individuals with biallelic FAM20A mutations will eventually show nephrocalcinosis.

Published
2012

37. Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal Recessive FAM20A Mutations

Author

Jaureguiberry, Graciana, primary, De la Dure-Molla, Muriel, additional, Parry, David, additional, Quentric, Mickael, additional, Himmerkus, Nina, additional, Koike, Toshiyasu, additional, Poulter, James, additional, Klootwijk, Enriko, additional, Robinette, Steven L., additional, Howie, Alexander J., additional, Patel, Vaksha, additional, Figueres, Marie-Lucile, additional, Stanescu, Horia C., additional, Issler, Naomi, additional, Nicholson, Jeremy K., additional, Bockenhauer, Detlef, additional, Laing, Christopher, additional, Walsh, Stephen B., additional, McCredie, David A., additional, Povey, Sue, additional, Asselin, Audrey, additional, Picard, Arnaud, additional, Coulomb, Aurore, additional, Medlar, Alan J., additional, Bailleul-Forestier, Isabelle, additional, Verloes, Alain, additional, Le Caignec, Cedric, additional, Roussey, Gwenaelle, additional, Guiol, Julien, additional, Isidor, Bertrand, additional, Logan, Clare, additional, Shore, Roger, additional, Johnson, Colin, additional, Inglehearn, Christopher, additional, Al-Bahlani, Suhaila, additional, Schmittbuhl, Matthieu, additional, Clauss, François, additional, Huckert, Mathilde, additional, Laugel, Virginie, additional, Ginglinger, Emmanuelle, additional, Pajarola, Sandra, additional, Spartà, Giuseppina, additional, Bartholdi, Deborah, additional, Rauch, Anita, additional, Addor, Marie-Claude, additional, Yamaguti, Paulo M., additional, Safatle, Heloisa P., additional, Acevedo, Ana Carolina, additional, Martelli-Júnior, Hercílio, additional, dos Santos Netos, Pedro E., additional, Coletta, Ricardo D., additional, Gruessel, Sandra, additional, Sandmann, Carolin, additional, Ruehmann, Denise, additional, Langman, Craig B., additional, Scheinman, Steven J., additional, Ozdemir-Ozenen, Didem, additional, Hart, Thomas C., additional, Hart, P. Suzanne, additional, Neugebauer, Ute, additional, Schlatter, Eberhard, additional, Houillier, Pascal, additional, Gahl, William A., additional, Vikkula, Miikka, additional, Bloch-Zupan, Agnès, additional, Bleich, Markus, additional, Kitagawa, Hiroshi, additional, Unwin, Robert J., additional, Mighell, Alan, additional, Berdal, Ariane, additional, and Kleta, Robert, additional

Published
2013
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39. Calcineurin Inhibitors Downregulate HNF-1β and May Affect the Outcome of HNF1BPatients After Renal Transplantation

Author

Faguer, Stanislas, Esposito, Laure, Casemayou, Audrey, Pirson, Yves, Decramer, Stéphane, Cartery, Claire, Hazzan, Marc, Garrigue, Valérie, Roussey, Gwenaelle, Cointault, Olivier, Ho, Thien, Merville, Pierre, Devuyst, Olivier, Gourdy, Pierre, Chassaing, Nicolas, Bascands, Jean-Loup, Kamar, Nassim, Schanstra, Joost-Peter, Rostaing, Lionel, and Chauveau, Dominique

Abstract

After kidney transplantation, 50% of patients with HNF1β mutations develop posttransplant diabetes mellitus and 40% have liver tests abnormalities. The authors discuss the role of cyclosporine as a blocker of HNF1β and test this hypothesis in in vitro experiments. Supplemental digital content is available in the text.

Published
2016
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40. Renal and Extrarenal Phenotypes in Patients With HNF1B Variants and Chromosome 17q12 Microdeletions.

Author

Buffin-Meyer B, Richard J, Guigonis V, Weber S, König J, Heidet L, Moussaoui N, Vu JP, Faguer S, Casemayou A, Prakash R, Baudouin V, Hogan J, Alexandrou D, Bockenhauer D, Bacchetta J, Ranchin B, Pruhova S, Zieg J, Lahoche A, Okorn C, Antal-Kónya V, Morin D, Becherucci F, Habbig S, Liebau MC, Mauras M, Nijenhuis T, Llanas B, Mekahli D, Thumfart J, Tönshoff B, Massella L, Eckart P, Cloarec S, Cruz A, Patzer L, Roussey G, Vrillon I, Dunand O, Bessenay L, Taroni F, Zaniew M, Louillet F, Bergmann C, Schaefer F, van Eerde AM, Schanstra JP, and Decramer S

Abstract

Introduction: Hepatocyte nuclear factor 1-beta ( HNF1B ) gene variants or the chromosome 17q12 deletion (17q12del) represent the most common monogenic cause of developmental kidney disease. Although neurodevelopmental disorders have been associated with the 17q12del, specific genotype-phenotype associations with respect to kidney function evolution have not yet been fully defined. Here, we aimed to determine whether 17q12del or specific HNF1B variants were associated with kidney survival in a large patient population with HNF1B disease., Methods: This was a retrospective observational study involving 521 patients with HNF1B disease from 14 countries using the European Reference Network for rare kidney diseases with detailed information on the HNF1B genotype ( HNF1B variants or the 17q12del). Median follow-up time was 11 years with 6 visits per patient. The primary end point was progression to chronic kidney disease (CKD) stage 3 (estimated glomerular filtration rate [eGFR] < 60 ml/min per 1.73 m 2 ). Secondary end points were the development of hypomagnesemia or extrarenal disorders, including hyperuricemia and hyperglycemia., Results: Progression toward CKD stage 3 was significantly delayed in patients with the 17q12del compared to patients with HNF1B variants (hazard ratio [HR]: 0.29, 95% confidence interval [CI]: 0.19-0.44, P  < 0.001). Progression toward CKD stage 3 was also significantly delayed when HNF1B variants involved the HNF1B Pit-1, Oct-1, and Unc-86 homeodomain (POU h ) DNA-binding and transactivation domains rather than the POU-specific domain (POU s ) DNA-binding domain (HR: 0.15 [95% CI: 0.06-0.37), P  < 0.001 and HR: 0.25 (95% CI: 0.11-0.57), P  = 0.001, respectively). Finally, the 17q12del was positively associated with hypomagnesemia and negatively associated with hyperuricemia, but not with hyperglycemia., Conclusion: Patients with the 17q12del display a significantly better kidney survival than patients with other HNF1B variants; and for the latter, variants in the POU s DNA-binding domain lead to the poorest kidney survival. These are clinically relevant HNF1B kidney genotype-phenotype correlations that inform genetic counseling., (© 2024 International Society of Nephrology. Published by Elsevier Inc.)

Published
2024
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41. Social Deprivation Is Associated With Lower Access to Pre-emptive Kidney Transplantation and More Urgent-Start Dialysis in the Pediatric Population.

Author

Driollet B, Bayer F, Kwon T, Krid S, Ranchin B, Tsimaratos M, Parmentier C, Novo R, Roussey G, Tellier S, Fila M, Zaloszyc A, Godron-Dubrasquet A, Cloarec S, Vrillon I, Broux F, Bérard E, Taque S, Pietrement C, Nobili F, Guigonis V, Launay L, Couchoud C, Harambat J, and Leffondré K

Abstract

Introduction: Socioeconomic status (SES) is recognized as an important determinant of kidney health. We aimed to evaluate the association of social deprivation with different indicators at kidney replacement therapy (KRT) initiation in the French pediatric metropolitan population., Methods: All patients with end-stage kidney disease (ESKD) who started KRT before 20 years old in France between 2002 and 2015 were included. We investigated different indicators at KRT initiation, which are as follows: KRT modality (dialysis vs. pre-emptive transplantation), late referral to a nephrologist, and dialysis modality (hemodialysis [HD] vs. peritoneal dialysis [PD], urgent vs. planned start of dialysis, use of catheter vs. use of fistula for HD vascular access). An ecological index (European Deprivation Index [EDI]) was used as a proxy for social deprivation., Results: A total of 1115 patients were included (males 59%, median age at dialysis 14.4 years, glomerular/vascular diseases 36.8%). The most deprived group represented 38.7% of the patients, suggesting pediatric patients with ESKD come from a more socially deprived background. The most deprived group was more likely to initiate KRT with dialysis versus kidney transplantation. Among patients on HD, the odds of starting treatment in emergency with a catheter was >2-fold higher for the most deprived compared with the least deprived children (adjusted odds ratio [aOR] 2.35, 95% CI 1.16-4.78)., Conclusion: Children from the most deprived area have lower access to pre-emptive transplantation, have lower access to PD, tend to be late referred to a nephrologist, and have more urgent initiation of HD with a catheter., (© 2021 International Society of Nephrology. Published by Elsevier Inc.)

Published
2021
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42. Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations.

Author

Jaureguiberry G, De la Dure-Molla M, Parry D, Quentric M, Himmerkus N, Koike T, Poulter J, Klootwijk E, Robinette SL, Howie AJ, Patel V, Figueres ML, Stanescu HC, Issler N, Nicholson JK, Bockenhauer D, Laing C, Walsh SB, McCredie DA, Povey S, Asselin A, Picard A, Coulomb A, Medlar AJ, Bailleul-Forestier I, Verloes A, Le Caignec C, Roussey G, Guiol J, Isidor B, Logan C, Shore R, Johnson C, Inglehearn C, Al-Bahlani S, Schmittbuhl M, Clauss F, Huckert M, Laugel V, Ginglinger E, Pajarola S, Spartà G, Bartholdi D, Rauch A, Addor MC, Yamaguti PM, Safatle HP, Acevedo AC, Martelli-Júnior H, dos Santos Netos PE, Coletta RD, Gruessel S, Sandmann C, Ruehmann D, Langman CB, Scheinman SJ, Ozdemir-Ozenen D, Hart TC, Hart PS, Neugebauer U, Schlatter E, Houillier P, Gahl WA, Vikkula M, Bloch-Zupan A, Bleich M, Kitagawa H, Unwin RJ, Mighell A, Berdal A, and Kleta R

Subjects
Adolescent, Adult, Amelogenesis Imperfecta complications, Amelogenesis Imperfecta pathology, Child, Consanguinity, Exome genetics, Family Health, Female, Genes, Recessive genetics, Genome-Wide Association Study, Humans, Male, Middle Aged, Nephrocalcinosis complications, Nephrocalcinosis pathology, Pedigree, Sequence Analysis, DNA methods, Syndrome, Young Adult, Amelogenesis Imperfecta genetics, Dental Enamel Proteins genetics, Genetic Predisposition to Disease genetics, Mutation, Nephrocalcinosis genetics
Abstract

Background/aims: Calcium homeostasis requires regulated cellular and interstitial systems interacting to modulate the activity and movement of this ion. Disruption of these systems in the kidney results in nephrocalcinosis and nephrolithiasis, important medical problems whose pathogenesis is incompletely understood., Methods: We investigated 25 patients from 16 families with unexplained nephrocalcinosis and characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption). To identify the causative gene, we performed genome-wide linkage analysis, exome capture, next-generation sequencing, and Sanger sequencing., Results: All patients had bi-allelic FAM20A mutations segregating with the disease; 20 different mutations were identified., Conclusions: This autosomal recessive disorder, also known as enamel renal syndrome, of FAM20A causes nephrocalcinosis and amelogenesis imperfecta. We speculate that all individuals with biallelic FAM20A mutations will eventually show nephrocalcinosis., (Copyright © 2013 S. Karger AG, Basel.)

Published
2012
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