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3. Clinical and genetic heterogeneity in familial steroid-sensitive nephrotic syndrome

Author

Dorval, Guillaume, Gribouval, Olivier, Martinez-Barquero, Vanesa, Machuca, Eduardo, Tête, Marie-Josèphe, Baudouin, Véronique, Benoit, Stéphane, Chabchoub, Imen, Champion, Gérard, Chauveau, Dominique, Chehade, Hassib, Chouchane, Chokri, Cloarec, Sylvie, Cochat, Pierre, Dahan, Karin, Dantal, Jacques, Delmas, Yahsou, Deschênes, Georges, Dolhem, Phillippe, Durand, Dominique, Ekinci, Zelal, El Karoui, Khalil, Fischbach, Michel, Grunfeld, Jean-Pierre, Guigonis, Vincent, Hachicha, Mongia, Hogan, Julien, Hourmant, Maryvonne, Hummel, Aurélie, Kamar, Nassim, Krummel, Thierry, Lacombe, Didier, Llanas, Brigitte, Mesnard, Laurent, Mohsin, Nabil, Niaudet, Patrick, Nivet, Hubert, Parvex, Paloma, Pietrement, Christine, de Pontual, Loic, Noble, Claire Pouteil, Ribes, David, Ronco, Pierre, Rondeau, Eric, Sallee, Marion, Tsimaratos, Michel, Ulinski, Tim, Salomon, Rémi, Antignac, Corinne, and Boyer, Olivia

Published
2017
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6. Estimating Time to ESRD in Children With CKD

Author

Susan L. Furth, Chris Pierce, Wun Fung Hui, Colin A. White, Craig S. Wong, Franz Schaefer, Elke Wühl, Alison G. Abraham, Bradley A. Warady, Joshua Samuels, Susan Furth, Meredith Atkinson, Amy Wilson, Alejandro Quiroga, Susan Massengill, Dave Selewski, Maria Ferris, Amy Kogon, Frederick Kaskel, Marc Lande, George Schwartz, Jeffrey Saland, Victoria Norwood, Tej Matoo, Guillermo Hidalgo, Poyyapakkam Srivaths, Joann Carlson, Craig Langman, Susan Mendley, Eunice John, Kiran Upadhyay, Patricia Seo-Mayer, Larry Patterson, Rulan Parekh, Lisa Robinson, Adam Weinstein, Dmitry Samsonov, Juan Kupferman, Jason Misurac, Anil Mongia, Steffan Kiessling, Cheryl Sanchez-Kazi, Allison Dart, Sahar Fathallah, Donna Claes, Mark Mitsnefes, Tom Blydt-Hansen, Bradley Warady, Larry Greenbaum, Joseph Flynn, Craig Wong, Isidro Salusky, Ora Yadin, Katherine Dell, Randall Jenkins, Cynthia Pan, Elaine Ku, Amira Al-Uzri, Nancy Rodig, Cynthia Wong, Keefe Davis, Martin Turman, Sharon Bartosh, Colleen Hastings, Anjali Nayak, Mouin Seikaly, Nadine Benador, Robert Mak, Ellen Wood, Gary Lerner, Gina Marie Barletta, A. Anarat, A. Bakkaloglu, F. Ozaltin, A. Peco-Antic, U. Querfeld, J. Gellermann, P. Sallay, D. Drożdż, K.-E. Bonzel, A.-M. Wingen, A. Żurowska, I. Balasz, A. Trivelli, F. Perfumo, D.E. Müller-Wiefel, K. Möller, G. Offner, B. Enke, E. Wühl, C. Hadtstein, O. Mehls, F. Schaefer, S. Emre, S. Caliskan, S. Mir, S. Wygoda, K. Hohbach-Hohenfellner, N. Jeck, G. Klaus, G. Ardissino, S. Testa, G. Montini, M. Charbit, P. Niaudet, A. Caldas-Afonso, A. Fernandes-Teixeira, J. Dušek, M.C. Matteucci, S. Picca, A. Mastrostefano, M. Wigger, U.B. Berg, G. Celsi, M. Fischbach, J. Terzic, J. Fydryk, T. Urasinski, R. Coppo, L. Peruzzi, K. Arbeiter, A. Jankauskiené, R. Grenda, M. Litwin, R. Janas, and T.J. Neuhaus

Subjects
medicine.medical_specialty, Time Factors, Adolescent, Databases, Factual, medicine.medical_treatment, 030232 urology & nephrology, Renal function, Disease, 030204 cardiovascular system & hematology, Kidney Function Tests, Risk Assessment, Article, Cohort Studies, 03 medical and health sciences, Sex Factors, 0302 clinical medicine, Renal Dialysis, Internal medicine, medicine, Humans, Renal replacement therapy, Renal Insufficiency, Chronic, Child, Proteinuria, business.industry, Age Factors, Infant, Guideline, medicine.disease, Treatment Outcome, Nephrology, Child, Preschool, North America, Disease Progression, Kidney Failure, Chronic, Observational study, medicine.symptom, business, Follow-Up Studies, Glomerular Filtration Rate, Kidney disease, Cohort study
Abstract

RATIONALE & OBJECTIVE: The KDIGO (Kidney Disease: Improving Global Outcomes) guideline on CKD presented an international classification system that ranks patients' risk for CKD progression. Few data on children informed guideline development STUDY DESIGN: Observational cohort study SETTINGS AND PARTICIPANTS: Children aged 1-18 years enrolled in the North American Chronic Kidney Disease in Children (CKiD) cohort study and the European Effect of Strict Blood Pressure Control and ACE Inhibition on the Progression of CRF in Pediatric Patients (ESCAPE) trial. PREDICTOR: Level of estimated glomerular filtration rate (eGFR) and proteinuria (urine protein-creatinine ratio (mg/mg)) at study entry OUTCOME: A composite event of renal replacement therapy, 50% reduction of estimated GFR (eGFR), or eGFR 2.0 at study entry. Six ordered stages with varying combinations of eGFR categories (60-89, 45-59, 30-44 and 15-29 ml/min/1.73m(2)) and UPCR categories (2.0) described the risk continuum. Median times to event ranged from >10 years for eGFR 45-90 and UPCR 2. Children with glomerular disease were estimated to have a 43% shorter time to event than children with nonglomerular disease. Cross-validation demonstrated risk patterns that were consistent across the ten subsample validation models. LIMITATIONS: Observational study, utilized cross validation rather than external validation CONCLUSION: CKD staged by level of eGFR and proteinuria characterizes the timeline of progression and can guide management strategies in children.

Published
2018
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7. Hemolytic-Uremic Syndrome in Children

Author

Boyer, Olivia and Niaudet, Patrick

Abstract

Hemolytic uremic syndrome is characterized by a triad of microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney failure. Most cases are caused by Shiga-toxin-producing bacteria, especially Escherichia coli. Transmission occurs through ground beef and unpasteurized milk. STEC-HUS is the main cause of acute renal failure in children. Management remains supportive. Immediate outcome is most often. Atypical HUS represents about 5% of cases, has a relapsing course with more than half of the patients progressing to end-stage kidney failure. Most cases are due to variants in complement regulators of the alternative pathway. Complement inhibitors, such as eculizumab, have considerably improved the prognosis.

Published
2022
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8. Les nanomatériaux manufacturés dans l’environnement professionnel : un aperçu de l’état de l’art

Author

Chami, K., Feltin, N., Gaffet, E., Lacour, S., Lassus, M., Le Bihan, O., Niaudet, A., Ricaud, M., and Nesslany, F.

Abstract

•La coexistence, en Europe, de multiples définitions et réglementations des nanomatériaux manufacturés (NM) ouvre des possibilités de contestations qui nuisent à la gestion des risques. Elle n’exclue pour autant pas la référence systématique à une échelle nanométrique étroite (1 à 100nm) fondée sur un consensus politique international faute de l’être sur le plan scientifique.•Des difficultés techniques persistent pour le développement d’une métrologie adaptée à la caractérisation des paramètres physicochimiques et à l’identification d’un nano-objet.•Le registre R-nano de déclaration annuelle obligatoire des substances à l’état nanoparticulaire fait état de plus de 400 000 tonnes de NM déployées sur le territoire national dans des secteurs très variés mais dont certains concentrent les quatre NM les plus fortement produits et importés : carbonate de calcium (CaCO3) ; noir de carbone ; dioxyde de silice (SiO2) et dioxyde de titane (TiO2).•Il est nécessaire de modifier et/ou d’adapter les méthodologies de caractérisation des dangers (éco)toxicologiques afin d’améliorer leur applicabilité et leur fiabilité à des fins d’évaluation des risques sanitaires et environnementaux liés à ces substances.•Des méthodes permettent désormais d’identifier des sources d’exposition et d’évaluer l’exposition potentielle d’un opérateur. Il reste à développer une mesure quantitative pour l’exposition aux NM.•Le cadre juridique existant impose une maîtrise des risques liés aux NM. Toutefois, l’effectivité et l’interprétation des dispositions réglementaires appellent des clarifications sur les définitions utilisables ainsi que des développements techniques.•La limitation des expositions professionnelles s’impose face aux incertitudes relatives aux effets sur la santé humaine des NM, avec instauration de procédures de prévention tout au long du cycle de vie des produits.•Des recommandations ont été énoncées en juin 2018 par le Haut Conseil de Santé Publique (HCSP) pour la protection des travailleurs exposés au TiO2 nanométrique.•Le dispositif national EpiNano seul système national de surveillance et d’alerte sanitaire dédié à la surveillance épidémiologique des travailleurs potentiellement exposés aux NM, unique en France, présente une démarche anticipatrice de veille sanitaire.

Published
2021
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9. Low incidence of SARS-CoV-2, risk factors of mortality and the course of illness in the French national cohort of dialysis patients

Author

Couchoud, Cécile, Bayer, Florian, Ayav, Carole, Béchade, Clémence, Brunet, Philippe, Chantrel, François, Frimat, Luc, Galland, Roula, Hourmant, Maryvonne, Laurain, Emmanuelle, Lobbedez, Thierry, Mercadal, Lucile, Moranne, Olivier, Abbassi, Abdelhamid, Debure, Alain, Guerraoui, Abdallah, Benmoussa, Abdelatif, Hamani, Abdelaziz, Ziane, Abdelaziz, Nefti, Abdelhamid, Hadj, Abdelkader, El Amari, Abderrahim, Ghazali, Abderrahmane, Abd El Fatah Mohamed, Abo Bakr, Laradi, Achour, Ben Ahmed, Adel, Sahar, Adel, Pillet, Adele, Lacraz, Adeline, Moinat, Adnan, Massoumi, Afshin, Pardon, Agathe, Beaudoin, Agnes Caillette, Debout, Agnes Chapelet, Mariot, Agnes, Rachi, Ahmed, Afiani, Aida, Boula, Aime Remy, Jalaby, Al, Cremault, Alain, Fournier, Alain, Jeanson, Alain, Lyon, Alain, Nony, Alain, Robert, Alain, Slingeneyer, Alain, Labatide, Alanor Agnes, Sartorius, Albane Brodin, Bensman, Albert, Fournier, Albert, Ranlin, Alex, Sandor, Alex Vido, Colombo, Alexandra, Duhem, Alexandra, Stancu, Alexandra, Dufay, Alexandre, Dumoulin, Alexandre, Ebel, Alexandre, Klein, Alexandre, Martin, Alexandre, Mouneimne, Alexandre, Seidowsky, Alexandre, De Martin, Alfio, Zannier, Alfredo, Aizel, Ali, Hafi, Ali, Diddaoui, Ali Zineddine, Heyani, Alim, Mocanu, Alina, Preda, Alina, Hafi, Aline, Talaszka, Aline, Duquesne, Alyette, Amaouche, Amar, Ghemmour, Amel, Simon, Amelie, Skalli, Amina, Boukadida, Amine, Ragab Eid, Amr Ekhlas, Fedorca, Ana, Baillet, Anabelle, Poyet, Anais, Giorgita, Ancuta Bouffandeau, Ratsimbazafy, Anderson, Pruna, Andre, Argiles, Angel, Testa, Angelo, Vandooren, Ann Karolien, Jolivot, Anne, Labadens, Anne Kolko, Lataste, Anne, Maisin, Anne, Paris, Anne, Sechet, Anne, Wuillai, Anne, Heng, Anne Elisabeth, Josse, Anne Gaelle, Querard, Anne Helene, Reboux, Anne Helene, Adra, Anne Laure, Faller, Anne Laure, Leclerc, Anne Laure, Poitou, Anne Laure, Manucci, Annie Lahoche, Jacquet, Antoine, Pommereau, Antoine, Thierry, Antoine, Adem, Arezki, Chapelet, Arielle, Del Bello, Arnaud, Delezire, Arnaud, Garnier, Arnaud, Guerard, Arnaud, Klisnick, Arnaud, Lionet, Arnaud, Roccabianca, Arnaud, Stolz, Arnaud, Capdeville, Arthur, Allal, Asma, Alrifai, Assem, Diarrassouba, Assetou, Djema, Assia, Carre, Assia Ferhat, Dubrasquet, Astrid Godron, Elmrabet, Atman Haddj, Jegado, Audrey, Thomas, Aurelia Bertholet, Salandre, Aurelie Davourie, Pajot, Aurelie, Lorthioir, Aurelien, Tiple, Aurelien, Sury, Aurore, Abokasem, Ayman, Sarraj, Ayman, Henaoui, Bachir, Chaghouri, Baher, Wehbe, Bassem, Ball, Beatrice, Viron, Beatrice, Issad, Belkassem, Corne, Benedicte Hodemon, Janbon, Benedicte, Deroure, Benjamin, Savenkoff, Benjamin, Jonon, Benoit, Vendrely, Benoit, Djelaleddine, Benyakoub, Ohry, Bernard, Painchart, Bernard, Strullu, Bernard, Temperville, Bernard, Ebikili, Bertin, Hacq, Bertrand, Morel, Bertrand, Aoun, Bilal, Muniz, Blanca, Chlih, Bouchra, Amara, Brahim, Mayor, Brice, Gilson, Brigitte, Llanas, Brigitte, Zins, Brigitte, Bourgeon, Bruno, Coevoet, Bruno, Guery, Bruno, Legallicier, Bruno, Paris, Bruno, Ranchin, Bruno, Seigneuric, Bruno, Dita, Camelia Ghiciuc, Prelipcean, Camelia, Hottelart, Carine Achard, Diet, Carine, Frangie, Carlos, Vela, Carlos, Muresan, Carmina, Deprele, Carole, Araujo, Caroline, Bidault, Caroline, Creput, Caroline, Delclaux, Caroline, Du Halgouet, Caroline, Favennec, Caroline, Freguin, Caroline, Vercel, Caroline Gourraud, Mesguen, Caroline, Obama, Caroline Ndomo, Poitou, Caroline, Dirhold, Caroline Preissig, Roubiou, Caroline, Albert, Catherine, Bessin, Catherine, De Marion Gaja, Catherine, Godart, Catherine, Lasseur, Catherine, Leocardi, Catherine, Lumbroso, Catherine, Melander, Catherine, Michel, Catherine, Maurouard, Catherine Quere, Rouannet, Catherine, Taddei, Catherine, Verove, Cathy, Guiraud, Cecile, Tafelin, Cecile, Baron, Cecile Turc, Formet, Cedric, Pinier, Cedric, De Ste Foy, Celia Lessore, Granolleras, Celine, Bennini, Chaouki, Cartou, Charles, Chazot, Charles, Jouzel, Charlotte, Badid, Cherif, Roubicek, Christa, Viaud, Christel, Verrier, Christelle, Chuet, Christian, Combe, Christian, Dabot, Christian, Duvic, Christian, Emond, Christian, Lagarde, Christian, Lamotte, Christian, Pain, Christian, Mousson, Christiane, Lorriaux, Christie, Beauchamp, Christine, Fumeron, Christine, Le Gurun, Christine, Leroy, Christine, Pietrement, Christine, Richer, Christine, Bouaka, Christophe, Charasse, Christophe, Goupy, Christophe, Ridel, Christophe, Castrale, Cindy, Detourne, Cindy, Francois, Clair, Presne, Claire, Trivin, Claire, Von Kotze, Clarissa, Bernard, Claude, Bonniol, Claude, Desvergnes, Claude, Raharivelina, Claude, Nistor, Claudia, Gueret, Claudine, Lloret, Claudine, Saltiel, Claudine, Rosati, Clelia, Rabate, Clementine, Stanescu, Corina, Ferrandini, Corinne, Guibergia, Corinne, Lemoine, Corinne, Passeron, Corinne, Kahil, Cynthia, Garrouste, Cyril, Van, Cyril Vo, Jolimoy, Cyrille, Kesraoui, Dalila, Jolly, Damien, Thibaudin, Damien, Teboulle, Dan, Daubresse, Daniel, Louvet, Daniel, Rasamimanantsoa, Daniel, Toledano, Daniel, Babici, Daniela, David, Daniela, Dincu, Daniela, Bruno, Danielle, May, Delia, Haussaire, Delphine, Viprey, Delphine Henriet, Bugnon, Denis, Fouque, Denis, Morin, Denis, Nour, Derradji, Mahmoud, Diab Mohamed, Cristescu, Diana Istrati, Aguilera, Didier, Coste, Didier, Hamel, Didier, Le Chapois, Didier, Testou, Didier, Erbilgin, Dilaver, Dahmane, Djamal, Quang, Doan Bui, Bertrand, Dominique, Besnier, Dominique, Blanchier, Dominique, Briffa, Dominique, Caux, Dominique, Durand, Dominique, Fleury, Dominique, Guerrot, Dominique, Hestin, Dominique, Jaubert, Dominique, Joly, Dominique, Lombart, Dominique, Pagniez, Dominique, Pierre, Dominique, Schohn, Dominique, Ikonga, Donatien, Visanica, Dorina, Bazin, Dorothee, Boury, Edouard, Maksour, Edouard, Agbonon, Ekoue, Harrami, Elarbi, Marcu, Elena, Tudorache, Elena, Caniot, Elisabeth, Semjen, Elisabeth, Tomkiewicz, Elisabeth, Scheidt, Elise, Gaboriau, Elke, Lamouroux, Elodie, Guiard, Elsa, Passos, Elsa Martin, Nsembani, Emerson, Fache, Emilie, Kalbacher, Emilie, Pambrun, Emilie, Pincon, Emilie, Launay, Emma Allain, Baron, Emmanuel, Dupuis, Emmanuel, Villar, Emmanuel, Charlin, Emmanuelle, Hecquet, Emmanuelle, Kohler, Emmanuelle, Laurain, Emmanuelle, Rosier, Emmanuelle, Figueroa, Enrique, Azoulay, Eric, Canivet, Eric, Daugas, Eric, Gauthier, Eric, Laruelle, Eric, Le Guen, Eric, Legrand, Eric, Moumas, Eric, Postec, Eric, Prinz, Eric, Renaudineau, Eric, Desport, Estelle, Sutra, Estelle Ricard, Berard, Etienne, Ged, Etienne, Robin, Etienne, Vilaine, Eve, Bargas, Evelyne, Namara, Evelyne Mac, Combarnous, François, Yazbeck, Fatima, Gerard, Fabien, Metivier, Fabien, Parazols, Fabien, Soulis, Fabien, Garnier, Fabrice, Messaoudene, Fadhila Pech, Haidar, Fadi, Boullenger, Fanny, Lepeytre, Fanny, Leroy, Fanny, Frejate, Fares, Bellahsene, Farid, Bellhasene, Farid, Saidani, Farid, Toure, Fatouma, Kriaa, Faycal, Nemmar, Fazia, Vetromile, Fernando, Chalmin, Florence, Lucats, Florence, Sens, Florence, Villemain, Florence, Plasse, Florent, Lebhour, Fouad, Schillinger, Francis, Berge, Franck, Bourdon, Franck, Bridoux, Franck, Reynaud, Franck, Babinet, Francois, Basse, Francois, Chantrel, Francois, Clair, Francois, Coulomb, Francois, De Cornelissen, Francois, Glowacki, Francois, Marchal, Francois, Maurice, Francois, Nobili, Francois, Pourreau, Francois, Provot, Francois, Amani, Francois Roux, Broux, Francoise, Bulte, Francoise, Heibel, Francoise, Leonetti, Francoise, Schott, Francoise Moussion, Le Roy, Frank, Besson, Frederic, Lavainne, Frederic, Tollis, Frederic, Bocquentin, Frederique, Meeus, Frederique, Vecina, Frederique, Von Ey, Friederike, Balit, Gabriel, Choukroun, Gabriel, Gruget, Gabriel, Huchard, Gabriel, Golea, Gabriella, Duneau, Gabrielle, Lefrancois, Gaelle, Pelle, Gaelle, Lebrun, Gaetan, Dumont, Genevieve, Brillet, Georges, Deschenes, Georges, Mourad, Georges, Stamatakis, Georges, Cazajous, Geraldine, D'ythurbide, Geraldine, Wiart, Geraldine Robitaille, Cardon, Gerard, Champion, Gerard, Deschodt, Gerard, Mangenot, Gerard, Motte, Gerard, Schortgen, Gerard, Boulahia, Ghada, Maakaroun, Ghassan, Michel, Ghylene Bourdat, Zanetta, Gilbert, Hufnagel, Gilles, Messier, Gilles, Piccoli, Giorgina, Desvergnes, Gregoire Couvrat, Bobrie, Guillaume, Bonnard, Guillaume, Clement, Guillaume, Jean, Guillaume, Queffeulou, Guillaume, Seret, Guillaume, Vernin, Guillaume, Delavaud, Guy, Lambrey, Guy, Rostoker, Guy, Poussard, Gwenaelle, Kesler, Gwenaelle Roussey, Leon, H., Aboubekr, Habib, Boulechfar, Hacene, Sekhri, Hacene, Hebibi, Hadia, Benalia, Hadjira, Fessi, Hafed, Atchia, Hafsabhai, Bittar, Haiat, Maiza, Hakim, Mazouz, Hakim, El Ali, Hamid, Bougrida, Hammouche, Van Der Pijl, Hans, Lokmane, Hassan, Izzedine, Hassane, Adda, Hassen, De Preneuf, Helene, Leray, Helene, Philippot, Helene, Boulanger, Henri, Merault, Henri, Renaud, Henri, Bonarek, Herve, Maheut, Herve, Nzeyimana, Hilaire, Mehama, Hocine, Zaidi, Hocine, Weclawiak, Hugo, Flodrops, Hugues, Karaaslan, Huseyin, Haskour, Ibrahim, Belhadj, Ihssen, Almoubarak, Imad, Haddad, Imad, Castellano, Ines, Ferrandiz, Ines, Daniliuc, Ioana, Darie, Ioana, Enache, Ioana, Prunescu, Ionut, Djiconkpode, Irenee, Shahapuni, Irina, Bouchoule, Isabelle, Devriendt, Isabelle, Kazes, Isabelle, Kolb, Isabelle, Landru, Isabelle, Poli, Isabelle, Rey, Isabelle, Segalen, Isabelle, Selcer, Isabelle, Vernier, Isabelle, Vrillon, Isabelle, Guenifi, Ismahane, Gheerbrandt, J. Dominique, Potier, Jacky, Becart, Jacques, Cledes, Jacques, Ducros, Jacques, Duvic, Jacques, Fourcade, Jacques, Gaultier, Jacques, Jurine, Jacques, Lebleu, Jacques, Ollier, Jacques, Charles, Jacques Ibsen, Yazji, Jamal, Mansour, Janette, Arnautou, Jean, Brocard, Jean, Carolfi, Jean, Montoriol, Jean, Gouin, Jean Baptiste, Palcoux, Jean Bernard, Bendini, Jean Christophe, Aldigier, Jean Claude, Alphonse, Jean Claude, Delbet, Jean Daniel, Bonne, Jean Francois, Cantin, Jean Francois, De Fremont, Jean Francois, Dessassis, Jean Francois, Subra, Jean Francois, Valentin, Jean Francois, Verdier, Jean Francois, Dion, Jean Jacques, Haultier, Jean Jacques, Montseny, Jean Jacques, Bacri, Jean Louis, Bouchet, Jean Louis, Mahe, Jean Luc, Chalopin, Jean Marc, Gabriel, Jean Marc, Hurot, Jean Marc, Lanau, Jean Marc, Batho, Jean Marie, Coulibaly, Jean Marie, Hardin, Jean Michel, Marc, Jean Michel, Poux, Jean Michel, Rebibou, Jean Michel, Tivollier, Jean Michel, Ottavioli, Jean Noel, Faucon, Jean Paul, Imiela, Jean Paul, Jaulin, Jean Paul, Masselot, Jean Paul, Ortiz, Jean Paul, Bourdenx, Jean Philippe, Devaux, Jean Philippe, Hammelin, Jean Philippe, Rivory, Jean Pierre, Wauquier, Jean Pierre, Larue, Jean Rene, Mondain, Jean Rene, Borde, Jean Sebastien, Virot, Jean Simon, Bosc, Jean Yves, Achiche, Jedjiga, Parasote, Jennifer, Diolez, Jeremie, Harambat, Jerome, Potier, Jerome, Sampol, Jerome, Mustel, Jihad, Lefevre, Jean Jacques, Maurizi, Jocelyne, Gamberoni, Joel, Claudeon, Joelle, Terzic, Joelle, Rogol, Joffrey, Sayegh, Johnny, Cardozo, Jorge, Brasseur, Jose, Guiserix, Jose, Barsumau, Joseph, Albaret, Julie, Beaume, Julie, Attias, Julie Sohier, Dehay, Julien, Hogan, Julien, Journet, Julien, Ott, Julien, Baleynaud, Juliette, Bacchetta, Justine, Faucher, Justine, Yousfi, Kamel, Dardim, Karim, Clabault, Karine, Moreau, Karine, Thomas, Kedna, Sirajedine, Khaled, Chedid, Khalil, El Kaeoui, Khalil, El Karoui, Khalil, Bouachi, Khedidja, Hue, Kheira, El Nasser, Khuzama, Akposso, Kodso, Kunz, Kristian, Bijak, Krzysztof, Kihal, Lilia, Rasoloarijaona, L., Harbouche, Laid, Bencheikh, Larbi, Lamriben, Larbie, Hanafi, Latifa, Parvez, Laura Braun, Champion, Laure, Croze, Laure, Eprinchard, Laure, Patrier, Laure, Nicolet, Laurence, Vrigneaud, Laurence, Duflot, Laurent, Mackaya, Leandre, Chenine, Leila, Odry, Leon, Tamiji, Lili Taghipour, Bouzar, Lilia Antri, Nga Messi, Liliane Ngango, Le Mouellic, Lionel, Mandart, Lise, Weis, Lise, Pouteau, Lise Marie, Georgieva, Lora, Vitanova, Lorita, Chalabi, Lotfi, Delvallez, Luc, Frimat, Luc, Fromentin, Luc, Marty, Luc, Monjot, Luc, Spataru, Luciana, Bessenay, Lucie, Boissinot, Lucie, Wajsbrot, Lucie, Rakoff, Lucien, Lebourg, Ludivine, Perez, Lydie, Lafage, Lyliane, Azzouz, Lynda, Dumoulin, Madeleine, Ouziala, Messaoud, Joseph, Maan, Brahimi, Mabrouk, Fat, Maeva Wong, Fort, Magalie, Nakhla, Magued, Abtahi, Mahdi, Albadawy, Mahen, Alouach, Mahmoud, Mezghani, Mahmoud, Daroux, Maite, Boukelmoune, Maklouf, Dhib, Malek, Touam, Malik, Dubau, Malina, Balde, Mamadou, Khoa, Man Nguyen, Ismer, Manfred, Mehdi, Manolie, Laforet, Manon, Bouiller, Marc, Eugene, Marc, Fila, Marc, Hazzan, Marc, Kribs, Marc, Ladriere, Marc, Lebot, Marc, Padilla, Marc, Souid, Marc, Marraoui, Marcel, Burbach, Maren, Manescu, Maria, Noguera Gonzalez, Maria Eugenia, Revenco, Mariana, Terrasse, Marianne, Essi, Marie, Macher, Marie Alice, Nogier, Marie Beatrice, Cazin, Marie Cecile, Schweitzer Camoin, Marie Christine, Thouret, Marie Christine, Hannaert, Marie Claude, Servel, Marie France, Chabannier, Marie Helene, Coudert Krier, Marie Jeanne, Catoliquot, Marie Noelle, Guillodo, Marie Paule, Gavard, Marie Sophie, Vairon Codaccioni, Marie Xaviere, Rabec, Marina, Freist, Marine, Gauthier, Marion, Lemaire, Marion, Mehrenberger, Marion, Venot, Marion, Pongas, Marios, Diant, Marlene Beaubrun, Levannier, Martial, Bertaux, Martine, Jablonski, Mathieu, Sacquepee, Mathieu, Dargelos, Mathilde, Lemoine, Mathilde, Tamain, Mathilde, Monge, Matthieu, Reberolle, Matthieu, Cousin, Maud, Francois, Maud, Baron, Maurice, Hoffmann, Maxime, Ingwiller, Maxime, Touzot, Maxime, Mohajer, Mederick, Maaz, Mehadji, Hanoy, Melanie, Marroc, Melanie, Cuny, Melodie, Van Der Straaten, Menno, Serveaux, Mf., Basteri, Michel, Chong, Michel Fen, Hecht, Michel, Massad, Michel, Normand, Michel, Olmer, Michel, Tolani, Michel, Tsimaratos, Michel, Hemery, Michele, Kessler, Michele, Esposito, Miguel, Shenouda, Milad, Kareche, Mimi, Khalili, Mina, Diaconita, Mirella, Rifard, Mohamad Khair, Aladib, Mohamed, Belmouaz, Mohamed, Brahim, Mohamed, Diouani, Mohamed, Cherif, Mohamed Fodil, Jamali, Mohamed, Maghlaoua, Mohamed, Meddeb, Mohamed, Ramdane, Mohamed, Rifaat, Mohamed, Islam, Mohamed Sharifull, Abbade, Mohamed Adnan, Amrandi, Mokhtar, Chawki, Mokhtar, Ciobotaru, Monica, Indrieis, Monica, Chanas, Monique, Hoarau, Monique, Tomeh, Monzer, Bellou, Moufida, Bouzernidj, Mouloud, Ammor, Mounia, Guergour, Mounir, Benzakour, Mountassir, Hachicha, Mourad, Coulibaly, Moussa, Smati, Mustafa, Al Morabiti, Mustapha, Amirou, Mustapha, Isnard, Myriam, Pastural, Myriam, Pujo, Myriam, Boumendjel, Nourredine, Majbri, Nabil, Goumri, Nabila, Mingat, Nadege, Bassilios, Nader, Kerkeni, Nadia, Sedrati, Nadia, Soltani, Nadia, Maroun, Nadine, Neyrat, Nadine, Luang, Nahn, El Esper, Najeh, Ammar, Naji, Ghali, Nasredine, Hamdini, Nasser, Noel, Natacha, Potelune, Natacha, Maisonneuve, Nathalie, Pertuiset, Nathalie, Raynal, Nathalie, Vittoz, Nathalie, Terki, Nazim, Castin, Nelly, Nankeu, Nestor, Bouvier, Nicolas, Keller, Nicolas, Legros, Nicolas, Peters, Nicolas, Quirin, Nicolas, Lefrancois, Nicole, Monnier, Nicole, Rance, Nicole, Bruckmann, Niels, Mertens, Noel, Lorcy, Nolwenn, Gilbert, Olivia, Coldefy, Olivier, Drouineau, Olivier, Dunand, Olivier, Fritz, Olivier, Imhoff, Olivier, Kourilsky, Olivier, Lavelle, Olivier, Moranne, Olivier, Papin, Olivier, Roques, Olivier, Le Maner, Ophelie, Benbrahim, Oussamah Fikri, Erina Torres, Pablo Antonio, Urena Torres, Pablo Antonio, Malvezzi, Paolo, Bindi, Pascal, Cluzel, Pascal, Fontanier, Pascal, Wheatley, Pascal, Depraetre, Pascale, Dubosq, Pascale, Halin, Pascale, Sebahoun, Pascale, Siohan, Pascale, Testevuide, Pascale, Deteix, Patrice, Nolen, Patrice, Hue, Patricia, Lemarchand, Patricia, Donnadieu, Patrick, Fievet, Patrick, Fohrer, Patrick, Francais, Patrick, Giraud, Patrick, Hallonet, Patrick, Henri, Patrick, Michaut, Patrick, Michaut, Patrick, Niaudet, Patrick, Pauly, Patrick, Thomas, Patrick, Deleaval, Patrik, Finielz, Paul, Stroumza, Paul, Yverneau, Paule Hardy, Caillard, Pauline, Palacin, Pedro, Aubertin, Perrine, Attias, Philippe, Brunet, Philippe, Chauveau, Philippe, Coindre, Philippe, Coste, Philippe, Dubot, Philippe, Fournier, Philippe, Hiernaux, Philippe, Jousset, Philippe, Yue Wah, Philippe Lan, Lang, Philippe, Le Cacheux, Philippe, Dupont, Philippe Martin, Michel, Philippe, Mirgaine, Philippe, Moriniere, Philippe, Nicoud, Philippe, Rieu, Philippe, Rousseau, Philippe, Sporer, Philippe, Thorel, Philippe, Vanhille, Philippe, Vigeral, Philippe, Zaoui, Philippe, Bataille, Pierre, Brignon, Pierre, Filipozzi, Pierre, Housset, Pierre, Peyronnet, Pierre, Ramperez, Pierre, Vautrin, Pierre, Michel, Pierre Alexandre, Westeel, Pierre Francois, Carron, Pierre Louis, Durand, Pierre Yves, Parent, Pierrot, Seniuta, Piotr, Kuentz, François, Fraoui, Rabah, Tetaz, Rachel, Amaria, Rachid, Bourouma, Rachid, Djeffal, Rachid, Nebbad, Rachida, Allal, Radia, Dimulescu, Radu, Boustani, Rafaat, Mesbah, Rafik, Makdassi, Raifat, Diab, Raji, Puslenghea, Raluca, Roura, Raoul, Khayat, Rateb, Azar, Raymond, Frayssinet, Raymond, Monkam, Regine, Boulahrouz, Rehouni, Boudet, Remi, Demontis, Renato, Gansey, Renaud, Cuvelier, Rene, Schmitt, Renee, Noordally, Reschad, Binaut, Reynald, Latif, Rezkallah, Dufresne, Richard, Montagnac, Richard, Reade, Richard, Genin, Robert, Novo, Robert, Fickl, Rocsana, Dufresne, Roger, Magnol, Roger, Issautier, Roland, Mortelette, Romain, Delaval, Ronan, Lohro, Ronan, M'barga, Roseline, Beau, S., Dupuis, Clémentine, Vidil, Marie Jacques, Hacini, Sabria, Dahmoune, Said, Lekhal, Saliha, Sakso, Salima Ahriz, Saksi, Salima, Citarda, Salvatore, Boubenider, Samir, Kassis, Samuel, Verhille, Sandra, Genestier, Sandrine, Muller, Sandrine, Krid, Saoussen, Richter, Sarah, Delbes, Sebastien, Mailliez, Sebastien, Veillon, Sebastien, Nony, Sébastien, Benarbia, Seddick, Beaudreuil, Severine, Benyaghla, Sidi Ali, Duquennoy, Simon, Baluta, Simona, Boncila, Simona, Mzoughi, Sonia, Ribal, Sonia, Acamer, Sophie, Chauvet, Sophie, Girerd, Sophie, Ozenne, Sophie, Parahy, Sophie, Duval, Sophie Rubens, Taque, Sophie, Menouer, Soraya, Chargui, Soumaya, Bataille, Stanislas, Barbier, Stephane, Billion, Stephane, Roueff, Stephane, Torner, Stephane, Martin, Stephane Jean, Coupel, Stephanie, Cloarec, Sylvie, Lavaud, Sylvie, Leou, Sylvie, Chatelet, T., Onesta, Tania, Benhabib, Tassadit, Bensalem, Tayeb, Dimulescu, Theodora, Sawadogo, Theophile, Hitze, Thibault Dolley, Baranger, Thierry, Boudemaghe, Thierry, Hannedouche, Thierry, Krummel, Thierry, Lobbedez, Thierry, Milcent, Thierry, Dervaux, Thomas, Guincestre, Thomas, Kofman, Thomas, Raphael, Thomas, Sadreux, Thomas, Ulinski, Tim, Roger, Tiphaine Guyon, Serrato, Tomas, Kofman, Tomek, Wong, Tony, Boubia, Toufik, Gbindoun, Ubald Assogba, Khuzaie, Usama, Caudwell, Valerie, Chatelet, Valerie, Crougneau, Valerie, De Precigout, Valerie, Drouillat, Valerie, Galantine, Valerie, Hugot, Valerie Granveau, Leroy, Valerie, Boubia, Veronique, Falque, Veronique, Fournier, Veronique, Queron, Veronique, Viviani, Veronique, Gueuttin, Victor, Panescu, Victor, Calonge, Victorio Menoyo, Nguyen, Viet, Allot, Vincent, Delattre, Vincent, Leduc, Vincent, Pradier, Vincent, Aglae, Violaine Emal, Badulescu, Viorica, Molina, Virginia, Besson, Virginie, Chaigne, Virginie, Jaber, Waddah, Boudi, Wael, El Haggan, Wael, Guillon, Wen Qin, Aneni, Wided Tabbi, Hanf, William, Kohn, Wladimir, Bellenfant, Xavier, Gaudry, Xavier Moreau, Delmas, Yahsou, Knefati, Yannick, Saingra, Yannick, Tirolien, Yannick, Mann, Youssef, Brunak, Yvan, Dimitrov, Yves, Doussy, Yves, Tanter, Yves, Benabid, Zaid, Soltani, Zaara, Boukerroucha, Zacharia, Takla, Zafer, Ramanantsialonina, Zana, Dickson, Zara, Tubail, Zead, Pour, Zoe Koochaki, Boukhalfa, Zohra, and Jacquot, Zohra

Abstract

The aim of this study was to estimate the incidence of COVID-19 disease in the French national population of dialysis patients, their course of illness and to identify the risk factors associated with mortality. Our study included all patients on dialysis recorded in the French REIN Registry in April 2020. Clinical characteristics at last follow-up and the evolution of COVID-19 illness severity over time were recorded for diagnosed cases (either suspicious clinical symptoms, characteristic signs on the chest scan or a positive reverse transcription polymerase chain reaction) for SARS-CoV-2. A total of 1,621 infected patients were reported on the REIN registry from March 16th, 2020 to May 4th, 2020. Of these, 344 died. The prevalence of COVID-19 patients varied from less than 1% to 10% between regions. The probability of being a case was higher in males, patients with diabetes, those in need of assistance for transfer or treated at a self-care unit. Dialysis at home was associated with a lower probability of being infected as was being a smoker, a former smoker, having an active malignancy, or peripheral vascular disease. Mortality in diagnosed cases (21%) was associated with the same causes as in the general population. Higher age, hypoalbuminemia and the presence of an ischemic heart disease were statistically independently associated with a higher risk of death. Being treated at a selfcare unit was associated with a lower risk. Thus, our study showed a relatively low frequency of COVID-19 among dialysis patients contrary to what might have been assumed.

Published
2020
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10. Influence du télétravail sur la santé des travailleurs

Author

Poirier, Rémi, Niaudet, Aurélie, Bastos, Henri, Bodin, Julie, Cros, Florence, Fadel, Marc, Descatha, Alexis, and Roquelaure, Yves

Abstract

Le télétravail s’est largement développé en France depuis la réforme du Code du travail de 2017, permettant de favoriser le recours à cette forme d’organisation du travail. Environ 4 à 5 % de personnes étaient télétravailleurs réguliers en 2019. Dans le contexte de la pandémie de Covid-19, cette proportion a pu atteindre 47 %, durant le premier confinement (mars à mai 2020).

Published
2024
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11. Low levels of urinary epidermal growth factor predict chronic kidney disease progression in children

Author

Azukaitis, Karolis, Ju, Wenjun, Kirchner, Marietta, Nair, Viji, Smith, Michelle, Fang, Zhiyin, Thurn-Valsassina, Daniela, Bayazit, Aysun, Niemirska, Anna, Canpolat, Nur, Bulut, Ipek Kaplan, Yalcinkaya, Fatos, Paripovic, Dusan, Harambat, Jerome, Cakar, Nilgun, Alpay, Harika, Lugani, Francesca, Mencarelli, Francesca, Civilibal, Mahmut, Erdogan, Hakan, Gellermann, Jutta, Vidal, Enrico, Tabel, Yilmaz, Gimpel, Charlotte, Ertan, Pelin, Yavascan, Onder, Melk, Anette, Querfeld, Uwe, Wühl, Elke, Kretzler, Matthias, Schaefer, Franz, Arbeiter, Klaus, Rosales, Alejandra, Dusek, Jiri, Zaloszyc, Ariane, Querfeld, Uwe, Gellermann, Jutta, Liebau, Max, Weber, Lutz, Muschiol, Evelin, Büscher, Rainer, Oh, Jun, Melk, Anette, Thurn-Valassina, Daniela, Haffner, Dieter, Schaefer, Franz, Gimpel, Charlotte, John, Ulrike, Wygoda, Simone, Jeck, Nikola, Wigger, Marianne, Testa, Sara, Murer, Luisa, Matteucci, Chiara, Jankauskiene, Augustina, Azukaitis, Karolis, Drozdz, Dorota, Lugani, Francesca, Zurowska, Aleksandra, Zaniew, Marcin, Litwin, Mieczyslaw, Nimierska, Anna, Teixeira, Ana, Peco-Antic, Amira, Paripovic, Dusan, Laube, Guido, Anarat, Ali, Bayazit, Aysun, Duzova, Ali, Bilginer, Yelda, Caliskan, Salim, Canpolat, Nur, Civilibal, Mahmut, Mir, Sevgi, Sözeri, Betül, Kranz, Brigitta, Mencarelli, Francesca, Dorn, Brigitte, Yalcinkaya, Fatos, Baskin, Esra, Cakar, Nilgun, Soylemezoglu, Oguz, Emre, Sevinc, Candan, Cengiz, Kiyak, Aysel, Ozcelik, Gul, Alpay, Harika, Shroff, Rukshana, Rachin, Bruno, Harambat, Jerome, Szczepanska, Maria, Erdogan, Hakan, Donmez, Osman, Balat, Ayse, Aksu, Nejat, Tabel, Yilmaz, Ertan, Pelin, Yilmaz, Ebru, Anarat, Ali, Bakkaloglu, Aysin, Ozaltin, Fatih, Peco-Antic, Amira, Querfeld, Uwe, Gellermann, Jutta, Sallay, Peter, Drożdż, Dorota, Bonzel, Klaus-Eugen, Wingen, Anna-Margrete, Żurowska, Aleksandra, Balasz, Irena, Trivelli, Antonella, Perfumo, Francesco, Müller-Wiefel, Dirk-Erhard, Möller, Kerstin, Offner, Gisela, Enke, Barbara, Wühl, Elke, Hadtstein, Charlotte, Mehls, Otto, Schaefer, Franz, Emre, Sevinc, Caliskan, Salim, Mir, Sevgi, Wygoda, Simone, Hohbach-Hohenfellner, Katharina, Jeck, Nickola, Klaus, Günter, Ardissino, Gianluigi, Testa, Sara, Montini, Giovanni, Charbit, Marina, Niaudet, Patrick, Afonso, Alberto Caldas, Fernandes-Teixeira, Ana, Dušek, Jiri, Matteucci, Chiara, Picca, Stefano, Wigger, Marianne, Berg, Ulla B., Celsi, Giovanni, Fischbach, Michel, Terzic, Joelle, Fydryk, Janusz, Urasinski, Tomasz, Coppo, Rosanna, Peruzzi, Licia, Arbeiter, Klaus, Jankauskiene, Augustina, Grenda, Ryszard, Litwin, Mieczyslaw, and Neuhaus, Thomas J.

Abstract

Urinary epidermal growth factor (uEGF) has recently been identified as a promising biomarker of chronic kidney disease (CKD) progression in adults with glomerular disease. Low levels of uEGF predict CKD progression and appear to reflect the extent of tubulointerstitial damage. We investigated the relevance of uEGF in pediatric CKD. We performed a post hoc analysis of the Cardiovascular Comorbidity in Children with CKD (4C) study, which prospectively follows children aged 6–17 years with baseline estimated glomerular filtration rate (eGFR) of 10–60 ml/min/1.73 m2. uEGF levels were measured in archived urine collected within 6 months of enrollment. Congenital abnormalities of the kidney and urinary tract were the most common cause of CKD, with glomerular diseases accounting for <10% of cases. Median eGFR at baseline was 28 ml/min/1.73 m2, and 288 of 623 participants (46.3%) reached the composite endpoint of CKD progression (50% eGFR loss, eGFR < 10 ml/min/1.73 m2, or initiation of renal replacement therapy). In a Cox proportional hazards model, higher uEGF/Cr was associated with a decreased risk of CKD progression (HR 0.76; 95% CI 0.69–0.84) independent of age, sex, baseline eGFR, primary kidney disease, proteinuria, and systolic blood pressure. The addition of uEGF/Cr to a model containing these variables resulted in a significant improvement in C-statistics, indicating better prediction of the 1-, 2- and 3-year risk of CKD progression. External validation in a prospective cohort of 222 children with CKD demonstrated comparable results. Thus, uEGF may be a useful biomarker to predict CKD progression in children with CKD.

Published
2019
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12. Acute kidney injury complicating nephrotic syndrome of minimal change disease

Author

Meyrier, Alain and Niaudet, Patrick

Abstract

Minimal change disease accounts for 70% to 90% of cases of nephrotic syndrome in children. It also causes nephrotic syndrome in adults, including patients older than age 60. Renal function is altered moderately in approximately 20% to 30% of patients because foot-process fusion impairs filtration of water and solutes. The glomerular filtration rate is reduced by approximately 20% to 30% and returns to baseline with remission of proteinuria. Over the past 50 years, a number of publications have reported cases of acute kidney injury occurring in approximately one-fifth to one-third of adult cases in the absence of prior or concomitant renal disease. Clinical attributes point to a male predominance, age >50, massive proteinuria, severe hypoalbuminemia, a background of hypertension and vascular lesions on kidney biopsy, along with ischemic tubular necrosis. Acute kidney injury may require dialysis for weeks or months until remission of proteinuria allows resolution of oliguria. In some cases, renal function does not recover. An effect of endothelin-1–induced vasoconstriction at the onset of proteinuria has been proposed to explain tubular cell ischemic necrosis. The main factors causing acute kidney injury in patients with minimal change disease are diuretic-induced hypovolemia and nephrotoxic agents. Acute kidney injury is uncommon in children in the absence of intercurrent complications. Infection, nephrotoxic medication, and steroid resistance represent the main risk factors. In all patients, the goal of supportive therapy is essentially to buy time until glucocorticoids obtain remission of proteinuria, which allows resolution of renal failure.

Published
2018
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13. Estimating Time to ESRD in Children With CKD

Author

Furth, Susan L., Pierce, Chris, Hui, Wun Fung, White, Colin A., Wong, Craig S., Schaefer, Franz, Wühl, Elke, Abraham, Alison G., Warady, Bradley A., Samuels, Joshua, Furth, Susan, Atkinson, Meredith, Wilson, Amy, Quiroga, Alejandro, Massengill, Susan, Selewski, Dave, Ferris, Maria, Kogon, Amy, Kaskel, Frederick, Lande, Marc, Schwartz, George, Saland, Jeffrey, Norwood, Victoria, Matoo, Tej, Hidalgo, Guillermo, Srivaths, Poyyapakkam, Carlson, Joann, Langman, Craig, Mendley, Susan, John, Eunice, Upadhyay, Kiran, Seo-Mayer, Patricia, Patterson, Larry, Parekh, Rulan, Robinson, Lisa, Weinstein, Adam, Samsonov, Dmitry, Kupferman, Juan, Misurac, Jason, Mongia, Anil, Kiessling, Steffan, Sanchez-Kazi, Cheryl, Dart, Allison, Fathallah, Sahar, Claes, Donna, Mitsnefes, Mark, Blydt-Hansen, Tom, Warady, Bradley, Greenbaum, Larry, Flynn, Joseph, Wong, Craig, Salusky, Isidro, Yadin, Ora, Dell, Katherine, Jenkins, Randall, Pan, Cynthia, Ku, Elaine, Al-Uzri, Amira, Jenkins, Randall, Rodig, Nancy, Wong, Cynthia, Davis, Keefe, Turman, Martin, Bartosh, Sharon, Hastings, Colleen, Nayak, Anjali, Seikaly, Mouin, Benador, Nadine, Mak, Robert, Wood, Ellen, Jenkins, Randall, Lerner, Gary, Barletta, Gina Marie, Anarat, A., Bakkaloglu, A., Ozaltin, F., Peco-Antic, A., Querfeld, U., Gellermann, J., Sallay, P., Drożdż, D., Bonzel, K.-E., Wingen, A.-M., Żurowska, A., Balasz, I., Trivelli, A., Perfumo, F., Müller-Wiefel, D.E., Möller, K., Offner, G., Enke, B., Wühl, E., Hadtstein, C., Mehls, O., Schaefer, F., Emre, S., Caliskan, S., Mir, S., Wygoda, S., Hohbach-Hohenfellner, K., Jeck, N., Klaus, G., Ardissino, G., Testa, S., Montini, G., Charbit, M., Niaudet, P., Caldas-Afonso, A., Fernandes-Teixeira, A., Dušek, J., Matteucci, M.C., Picca, S., Mastrostefano, A., Wigger, M., Berg, U.B., Celsi, G., Fischbach, M., Terzic, J., Fydryk, J., Urasinski, T., Coppo, R., Peruzzi, L., Arbeiter, K., Jankauskiené, A., Grenda, R., Litwin, M., Janas, R., and Neuhaus, T.J.

Abstract

The KDIGO (Kidney Disease: Improving Global Outcomes) guideline for chronic kidney disease (CKD) presented an international classification system that ranks patients’ risk for CKD progression. Few data for children informed guideline development.

Published
2018
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14. A randomized clinical trial indicates that levamisole increases the time to relapse in children with steroid-sensitive idiopathic nephrotic syndrome

Author

Gruppen, Mariken P., Bouts, Antonia H., Jansen-van der Weide, Marijke C., Merkus, Maruschka P., Zurowska, Aleksandra, Maternik, Michal, Massella, Laura, Emma, Francesco, Niaudet, Patrick, Cornelissen, Elisabeth A.M., Schurmans, Thierry, Raes, Ann, van de Walle, Johan, van Dyck, Mieke, Gulati, Ashima, Bagga, Arvind, and Davin, Jean-Claude

Abstract

Levamisole has been considered the least toxic and least expensive steroid-sparing drug for preventing relapses of steroid-sensitive idiopathic nephrotic syndrome (SSINS). However, evidence for this is limited as previous randomized clinical trials were found to have methodological limitations. Therefore, we conducted an international multicenter, placebo-controlled, double-blind, randomized clinical trial to reassess its usefulness in prevention of relapses in children with SSINS. The efficacy and safety of one year of levamisole treatment in children with SSINS and frequent relapses were evaluated. The primary analysis cohort consisted of 99 patients from 6 countries. Between 100 days and 12 months after the start of study medication, the time to relapse (primary endpoint) was significantly increased in the levamisole compared to the placebo group (hazard ratio 0.22 [95% confidence interval 0.11–0.43]). Significantly, after 12 months of treatment, six percent of placebo patients versus 26 percent of levamisole patients were still in remission. During this period, the most frequent serious adverse event (four of 50 patients) possibly related to levamisole was asymptomatic moderate neutropenia, which was reversible spontaneously or after treatment discontinuation. Thus, in children with SSINS and frequent relapses, levamisole prolonged the time to relapse and also prevented recurrence during one year of treatment compared to prednisone alone. However, regular blood controls are necessary for safety issues.

Published
2018
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15. Age-Dependent Risk of Graft Failure in Young Kidney Transplant Recipients

Author

Kaboré, Rémi, Couchoud, Cécile, Macher, Marie-Alice, Salomon, Rémi, Ranchin, Bruno, Lahoche, Annie, Roussey-Kesler, Gwenaelle, Garaix, Florentine, Decramer, Stéphane, Pietrement, Christine, Lassalle, Mathilde, Baudouin, Véronique, Cochat, Pierre, Niaudet, Patrick, Joly, Pierre, Leffondré, Karen, and Harambat, Jérôme

Abstract

This retrospective national French cohort study confirms previous findings that the risk of graft failure is increased between 13 and 21 years of age compared to younger or older kidney transplant population. Unfortunately, the reasons behind this observation are not known.

Published
2017
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16. T cells specific for post-translational modifications escape intrathymic tolerance induction

Author

Raposo, Bruno, Merky, Patrick, Lundqvist, Christina, Yamada, Hisakata, Urbonaviciute, Vilma, Niaudet, Colin, Viljanen, Johan, Kihlberg, Jan, Kyewski, Bruno, Ekwall, Olov, Holmdahl, Rikard, and Bäcklund, Johan

Abstract

Establishing effective central tolerance requires the promiscuous expression of tissue-restricted antigens by medullary thymic epithelial cells. However, whether central tolerance also extends to post-translationally modified proteins is not clear. Here we show a mouse model of autoimmunity in which disease development is dependent on post-translational modification (PTM) of the tissue-restricted self-antigen collagen type II. T cells specific for the non-modified antigen undergo efficient central tolerance. By contrast, PTM-reactive T cells escape thymic selection, though the PTM variant constitutes the dominant form in the periphery. This finding implies that the PTM protein is absent in the thymus, or present at concentrations insufficient to induce negative selection of developing thymocytes and explains the lower level of tolerance induction against the PTM antigen. As the majority of self-antigens are post-translationally modified, these data raise the possibility that T cells specific for other self-antigens naturally subjected to PTM may escape central tolerance induction by a similar mechanism., Version of Record

Published
2018
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17. Observations of a large Dent disease cohort

Author

Blanchard, Anne, Curis, Emmanuel, Guyon-Roger, Tiphaine, Kahila, Diana, Treard, Cyrielle, Baudouin, Véronique, Bérard, Etienne, Champion, Gérard, Cochat, Pierre, Dubourg, Julie, de la Faille, Renaud, Devuyst, Olivier, Deschenes, Georges, Fischbach, Michel, Harambat, Jérôme, Houillier, Pascal, Karras, Alexandre, Knebelmann, Bertrand, Lavocat, Marie-Pierre, Loirat, Chantal, Merieau, Elodie, Niaudet, Patrick, Nobili, François, Novo, Robert, Salomon, Rémi, Ulinski, Tim, Jeunemaître, Xavier, and Vargas-Poussou, Rosa

Abstract

Dent disease classically combines low-molecular-weight proteinuria, hypercalciuria with nephrocalcinosis, and renal failure. Nephrotic range proteinuria, normal calciuria, and hypokalemia have been rarely reported. It is unknown whether the changes in phenotype observed over time are explained by a decrease in glomerular filtration rate (GFR) or whether there is any phenotype-genotype relationship. To answer this we retrospectively analyzed data from 109 male patients with CLCN5mutations (Dent-1) and 9 patients with mutation of the OCRLgene (Dent-2). In Dent-1 disease, the estimated GFR decreased with age, by 1.0 to 1.6 ml/min per 1.73 m2/yr in the absence and presence of nephrocalcinosis, respectively, with no significant difference. Median values of low-molecular-weight proteinuria were in the nephrotic range and remained at the same level even in late renal disease. End-stage renal disease occurred in 12 patients, at a median age of 40 years. Hypercalciuria decreased with glomerular filtration and was absent in 40% of the patients under 30 and 85% of those over the age of 30. Hypophosphatemia did not resolve with age and calcitriol concentrations were in the upper normal range. Kalemia decreased with age, with half of the patients over the age of 18 presenting with hypokalemia. Thus, no phenotype/genotype correlation was observed in this cohort of patients with Dent disease.

Published
2016
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18. Controversies and research agenda in nephropathic cystinosis: conclusions from a “Kidney Disease: Improving Global Outcomes” (KDIGO) Controversies Conference

Author

Langman, Craig B., Barshop, Bruce A., Deschênes, Georges, Emma, Francesco, Goodyer, Paul, Lipkin, Graham, Midgley, Julian P., Ottolenghi, Chris, Servais, Aude, Soliman, Neveen A., Thoene, Jess G., Levtchenko, Elena N., Amon, Oliver, Ariceta, Gema, Basurto, Maryan, Belmont-Martínez, Leticia, Bertholet-Thomas, Aurélia, Bos, Marjolein, Brown, Thomas, Cherqui, Stephanie, Cornelissen, Elisabeth A.M., Del Monte, Monte, Ding, Jie, Dohil, Ranjan, Doyle, Maya, Elenberg, Ewa, Gahl, William A., Gomez, Victor, Greco, Marcella, Greeley, Christy, Greenbaum, Larry A., Grimm, Paul, Hohenfellner, Katharina, Holm, Teresa, Hotz, Valerie, Janssen, Mirian C., Kaskel, Frederick, Magriço, Rita, Nesterova, Galina, Newsholme, Philip, Niaudet, Patrick, Rioux, Patrice, Sarwal, Minnie M., Schneider, Jerry, Topaloglu, Rezan, Trauner, Doris A., Vaisbich, Maria Helena, van den Heuvel, Lambertus P., and Van't Hoff, William

Abstract

Nephropathic cystinosis is an autosomal recessive metabolic, lifelong disease characterized by lysosomal cystine accumulation throughout the body that commonly presents in infancy with a renal Fanconi syndrome and, if untreated, leads to end-stage kidney disease (ESKD) in the later childhood years. The molecular basis is due to mutations in CTNS, the gene encoding for the lysosomal cystine-proton cotransporter, cystinosin. During adolescence and adulthood, extrarenal manifestations of cystinosis develop and require multidisciplinary care. Despite substantial improvement in prognosis due to cystine-depleting therapy with cysteamine, no cure of the disease is currently available. Kidney Disease: Improving Global Outcomes (KDIGO) convened a Controversies Conference on cystinosis to review the state-of-the-art knowledge and to address areas of controversies in pathophysiology, diagnostics, monitoring, and treatment in different age groups. More importantly, promising areas of investigation that may lead to optimal outcomes for patients afflicted with this lifelong, systemic disease were discussed with a research agenda proposed for the future.

Published
2016
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19. The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies

Author

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, Saunier, Sophie, 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, and Ziliotis, Marie-Julia

Abstract

Nephronophthisis (NPH) is an autosomal-recessive ciliopathy representing one of the most frequent causes of kidney failure in childhood characterized by a broad clinical and genetic heterogeneity. Applied to one of the worldwide largest cohorts of patients with NPH, genetic analysis encompassing targeted and whole exome sequencing identified disease-causing variants in 600 patients from 496 families with a detection rate of 71%. Of 788 pathogenic variants, 40 known ciliopathy genes were identified. However, the majority of patients (53%) bore biallelic pathogenic variants in NPHP1. NPH-causing gene alterations affected all ciliary modules defined by structural and/or functional subdomains. Seventy six percent of these patients had progressed to kidney failure, of which 18% had an infantile form (under five years) and harbored variants affecting the Inversin compartment or intraflagellar transport complex A. Forty eight percent of patients showed a juvenile (5-15 years) and 34% a late-onset disease (over 15 years), the latter mostly carrying variants belonging to the Transition Zone module. Furthermore, while more than 85% of patients with an infantile form presented with extra-kidney manifestations, it only concerned half of juvenile and late onset cases. Eye involvement represented a predominant feature, followed by cerebellar hypoplasia and other brain abnormalities, liver and skeletal defects. The phenotypic variability was in a large part associated with mutation types, genes and corresponding ciliary modules with hypomorphic variants in ciliary genes playing a role in early steps of ciliogenesis associated with juvenile-to-late onset NPH forms. Thus, our data confirm a considerable proportion of late-onset NPH suggesting an underdiagnosis in adult chronic kidney disease.

Published
2023
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20. RaDiCo-ECYSCO, une cohorte européenne dédiée à la cystinose.

Author

Servais, A., Guguen, S., Hogan, J., Bertholet-Thomas, A., Lemoine, S., Novo, R., Kormann, R., Toulait, L., and Niaudet, P.

Abstract

Copyright of Néphrologie & Thérapeutique is the property of John Libbey Eurotext Ltd. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Published
2022
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21. RaDiCo-ECYSCO, une cohorte européenne dédiée à la cystinose.

Author

Servais, A., Emma, F., Deschenes, G., Bertholet Thomas, A., Ariceta, G., Levtchenko, E., Novo, R., Sandrine, L., Chauveau, D., and Niaudet, P.

Abstract

Copyright of Néphrologie & Thérapeutique is the property of John Libbey Eurotext Ltd. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Published
2021
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22. An international cohort study spanning five decades assessed outcomes of nephropathic cystinosis

Author

Emma, Francesco, Hoff, William van’t, Hohenfellner, Katharina, Topaloglu, Rezan, Greco, Marcella, Ariceta, Gema, Bettini, Chiara, Bockenhauer, Detlef, Veys, Koenraad, Pape, Lars, Hulton, Sally, Collin, Suzanne, Ozaltin, Fatih, Servais, Aude, Deschênes, Georges, Novo, Robert, Bertholet-Thomas, Aurélia, Oh, Jun, Cornelissen, Elisabeth, Janssen, Mirian, Haffner, Dieter, Ravà, Lucilla, Antignac, Corinne, Devuyst, Olivier, Niaudet, Patrick, and Levtchenko, Elena

Abstract

Nephropathic cystinosis is a rare disease secondary to recessive mutations of the CTNSgene encoding the lysosomal cystine transporter cystinosin, causing accumulation of cystine in multiple organs. Over the years, the disease has evolved from being a fatal condition during early childhood into a treatable condition, with patients surviving into adulthood. Data on cystinosis are limited by the rarity of the disease. Here, we have investigated factors associated with kidney and growth outcome in a very large cohort of 453 patients born between 1964 and 2016 and followed in Belgium, Germany, Austria, France, Italy, Spain, The Netherlands, Turkey and United Kingdom. From the 1970s to the 1990s, the median increase in kidney survival was 9.1 years. During these years, cysteamine, a cystine-depleting agent, was introduced for the treatment of cystinosis. Significant risk factors associated with early progression to end-stage kidney disease assessed by Cox proportional multivariable analysis included delayed initiation of cysteamine therapy and higher mean leucocyte cystine levels. No significant effect on kidney function was observed for gender, pathogenic variant of the CTNSgene, and the prescription of indomethacin or renin angiotensin system blockers. Significantly improved linear growth was associated with early use of cysteamine and lower leukocyte cystine levels. Thus, our study provides strong evidence in favor of early diagnosis and optimization of cystine depletion therapy in nephropathic cystinosis.

Published
2021
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23. Risques sanitaires liés au travail de nuit : conclusions de l’expertise de l’Anses

Author

Lasfargues, G., Attia, D., and Niaudet, A.

Abstract

L’Anses a été saisie en 2011 pour procéder à une évaluation des risques sanitaires pour les professionnels exposés à des horaires atypiques, notamment ceux soumis à un travail de nuit habituel, qu’il soit régulier ou non. Elle a mis en place un groupe de travail multidisciplinaire pour la réalisation de cette expertise.

Published
2016
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24. How the French national authority for health assesses medicines for use in pediatrics.

Author

Rebstock C, Mussetta B, Martinez S, Diatta T, Desbiolles A, Alberti C, Niaudet P, Viaux-Savelon S, Cochat P, and Mercier JC

Subjects
Humans, France, Child, Pediatrics
Abstract

Children deserve to be treated with appropriate medicines based on robust assessments. Despite the introduction of new regulations, the availability of medicines for children is suboptimal because of the frequent lack of relevant clinical trials due to the difficulty of conducting such trials. Thus, the Transparency Committee (TC) of the French National Authority for Health, who oversees the assessment of medicinal products in France, set up a pediatric working group with two aims: (1) The first aim was to review all opinions on medicines for pediatric use. Out of 536 opinions delivered between 2020 and 2022, 181 (34 %) concerned medicines for pediatric use. Whereas oncology largely dominated the medicines for adults, medicines for infectious diseases, endocrinology/metabolism, neurology, and hematology mostly prevailed for children. (2) The second aim was to clarify the evaluation criteria assessed by the TC, namely, the clinical benefit (CB), the clinical added value (CAV), and the public health impact (PHI) for pediatric medicinal products. An important CB was given to 113 out of 161 (71 %) opinions on medicines for pediatric use when it concerned pathologies with a severe prognosis. The quality of the demonstration (e.g., double-blind randomized trial vs. placebo or another active medicine) played a major role in the CB level. Clinical pediatric studies were also consistently associated with higher CAV levels: levels I (major) to III (moderate) in 26 out of 42 (62 %) opinions, level IV (minor) and level V (no therapeutic progress) in 43 out of 84 (51 %) and 30 out of 43 (70 %) opinions granting a sufficient CB, respectively. Conversely, 22 out of 30 (73 %) dossiers based only on literature reviews were given a level V. The main criteria leading to the qualification of a medicine for pediatric use as providing a PHI included a significant change in the morbidity and mortality of the disease and an improvement in the care pathway. Assessments were mostly aligned on the adults in the case of subsequent extensions of indications to children. Lastly, new measures were taken aimed at shortening median delays in the assessment process in order to reduce off-label use of medicines in France., Competing Interests: Declaration of competing interests None (See https://dpi-declaration.sante.gouv.fr)., (Copyright © 2024 French Society of Pediatrics. Published by Elsevier Masson SAS. All rights reserved.)

Published
2024
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26. Outcome of infantile nephropathic cystinosis depends on early intervention, not genotype: A multicenter sibling cohort study.

Author

Veys K, Zadora W, Hohenfellner K, Bockenhauer D, Janssen MCH, Niaudet P, Servais A, Topaloglu R, Besouw M, Novo R, Haffner D, Kanzelmeyer N, Pape L, Wühl E, Harms E, Awan A, Sikora P, Ariceta G, van den Heuvel B, and Levtchenko E

Subjects
Infant, Newborn, Humans, Child, Preschool, Child, Adolescent, Young Adult, Adult, Cysteamine therapeutic use, Siblings, Cohort Studies, Retrospective Studies, Cystinosis drug therapy, Cystinosis genetics, Cystinosis complications, Fanconi Syndrome drug therapy, Fanconi Syndrome genetics, Kidney Failure, Chronic etiology
Abstract

Infantile nephropathic cystinosis (INC) is an inheritable lysosomal storage disorder characterized by lysosomal cystine accumulation, progressive kidney disease, and multiple extrarenal complications (ERCs). Cysteamine postpones the onset of end-stage kidney disease (ESKD) and reduces the incidence of ERCs; however, cysteamine is generally initiated upon establishment of the renal Fanconi syndrome (FS) and partial loss of kidney function, whereas data on long-term effects of cysteamine administered from neonatal age are lacking. An international multicenter retrospective cohort study of siblings with INC was set up to investigate the outcome in relation to age at initiation of cysteamine versus CTNS genotype, with attention to patients treated with cysteamine from neonatal age. None of the siblings treated from neonatal age (n = 9; age 10 ± 6 years) had reached ESKD, while 22% of their index counterparts (n = 9; age 14 ± 5 years) had commenced renal replacement therapy. Siblings treated with cysteamine from the onset of symptoms at a younger age compared with their index counterparts, reached ESKD at a significant older age (13 ± 3 vs. 10 ± 3 years, p = 0.002). In contrast, no significant difference in ERCs was observed between sibling and index patients, independently from the age at initiation of cysteamine. The CTNS genotype had no impact on the overall outcome in this cohort. In INC, presymptomatic treatment with cysteamine results in a better renal outcome in comparison to treatment initiated from the onset of symptoms. This justifies including cystinosis into newborn screening programs. SYNOPSIS: In infantile nephropathic cystinosis, presymptomatic treatment with cysteamine improves the renal outcome which justifies the inclusion of cystinosis into newborn screening programs., (© 2022 SSIEM.)

Published
2023
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27. Association between 25(OH) vitamin D and graft survival in renal transplanted children.

Author

Mosca M, Lion-Lambert M, Bienaimé F, Berthaud R, Dorval G, Garcelon N, Dehoux L, Krid S, Charbit M, Rabant M, Niaudet P, Salomon R, Bacchetta J, and Boyer O

Subjects
Adolescent, Allografts, Biomarkers blood, Child, Child, Preschool, Female, Follow-Up Studies, France epidemiology, Graft Rejection blood, Graft Rejection epidemiology, Graft Survival, Humans, Incidence, Infant, Infant, Newborn, Male, Radioimmunoassay, Retrospective Studies, Seasons, Survival Rate trends, Transplant Recipients, Vitamin D blood, Vitamin D Deficiency blood, Vitamin D Deficiency epidemiology, Graft Rejection etiology, Kidney Transplantation adverse effects, Vitamin D analogs & derivatives, Vitamin D Deficiency complications
Abstract

Background: In children, vitamin D deficiency is common after renal transplantation. Besides promoting bone and muscle development, vitamin D has immunomodulatory effects, which could protect kidney allografts. The purpose of this study was to assess the association between vitamin D status and the occurrence of renal rejection., Methods: We studied a retrospective cohort of 123 children, who were transplanted at a single institution between September 2008 and April 2019. Patients did not receive vitamin D supplementation systematically. In addition, factors influencing vitamin D status were analyzed using univariate and multivariate analyses., Results: Median 25-hydroxy-vitamin D (25-OH-D) concentration was close to reference values at the time of transplantation (30 ng/mL (min-max 5-100)), but rapidly decreased within the first 3 months to 19 ng/mL (min-max 3-91) (P < .001). The overall acute rejection rate was 7%. The clinical rejection rate (5% vs 9%), subclinical rejection (12% vs 36%), and borderline changes (21% vs 28%) were not statistically different during the follow-up between the 3-month 25-OH-D < 20 ng/mL and 3-month 25-OH-D > 20 ng/mL groups. There was a correlation between the 25-OH-D levels and PTH concentration at 3 months (r = -.2491, P = .01), but no correlation between the 3-month 25-OH-D and the season of the year (F = 0.19, P = .90; F = 1.34, P = .27, respectively). Multivariate analyses revealed that age and mGFR at 3 months, were independent predictors of mGFR at 12 months., Conclusion: Our data show that vitamin D deficiency can develop rapidly after transplantation; vitamin D levels at 3 months are not associated with lower mGFR or a higher rejection rate at 1 year in children as opposed to adult recipients., (© 2020 Wiley Periodicals LLC.)

Published
2020
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28. Treatment and outcome of congenital nephrotic syndrome.

Author

Bérody S, Heidet L, Gribouval O, Harambat J, Niaudet P, Baudouin V, Bacchetta J, Boudaillez B, Dehennault M, de Parscau L, Dunand O, Flodrops H, Fila M, Garnier A, Louillet F, Macher MA, May A, Merieau E, Monceaux F, Pietrement C, Rousset-Rouvière C, Roussey G, Taque S, Tenenbaum J, Ulinski T, Vieux R, Zaloszyc A, Morinière V, Salomon R, and Boyer O

Subjects
Disease Progression, Female, France epidemiology, Humans, Incidence, Infant, Infant, Newborn, Male, Nephrotic Syndrome epidemiology, Nephrotic Syndrome genetics, Nephrotic Syndrome therapy, Retrospective Studies, Survival Rate, Treatment Outcome, Membrane Proteins genetics, Mutation, Nephrectomy mortality, Nephrotic Syndrome mortality
Abstract

Background: Recommendations for management of Finnish-type congenital nephrotic syndrome (CNS) followed by many teams include daily albumin infusions, early bilateral nephrectomy, dialysis and transplantation. We aimed to assess the treatment and outcome of patients with CNS in France., Methods: We conducted a nationwide retrospective study on 55 consecutive children born between 2000 and 2014 treated for non-infectious CNS., Results: The estimated cumulative incidence of CNS was 0.5/100 000 live births. The underlying defect was biallelic mutations in NPHS1 (36/55, 65%), NPHS2 (5/55, 7%), PLCE1 (1/55, 2%), heterozygous mutation in WT1 (4/55, 7%) and not identified in nine children (16%). Fifty-three patients (96%) received daily albumin infusions from diagnosis (median age 14 days), which were spaced and withdrawn in 10 patients. Twenty children (35%) were managed as outpatients. Thirty-nine patients reached end-stage kidney disease (ESKD) at a median age of 11 months. The overall renal survival was 64% and 45% at 1 and 2 years of age, respectively. Thirteen children died during the study period including four at diagnosis, two of nosocomial catheter-related septic shock, six on dialysis and one after transplantation. The remaining 13 patients were alive with normal renal function at last follow-up [median 32 months (range 9-52)]. Renal and patient survivals were longer in patients with NPHS1 mutations than in other patients. The invasive infection rate was 2.41/patient/year., Conclusions: Our study shows: (i) a survival free from ESKD in two-thirds of patients at 1 year and in one-half at 2 years and (ii) a significant reduction or even a discontinuation of albumin infusions allowing ambulatory care in a subset of patients. These results highlight the need for new therapeutic guidelines for CNS patients., (© The Author(s) 2018. Published by Oxford University Press on behalf of ERA-EDTA. All rights reserved.)

Published
2019
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29. Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1.

Author

Mansour-Hendili L, Blanchard A, Le Pottier N, Roncelin I, Lourdel S, Treard C, González W, Vergara-Jaque A, Morin G, Colin E, Holder-Espinasse M, Bacchetta J, Baudouin V, Benoit S, Bérard E, Bourdat-Michel G, Bouchireb K, Burtey S, Cailliez M, Cardon G, Cartery C, Champion G, Chauveau D, Cochat P, Dahan K, De la Faille R, Debray FG, Dehoux L, Deschenes G, Desport E, Devuyst O, Dieguez S, Emma F, Fischbach M, Fouque D, Fourcade J, François H, Gilbert-Dussardier B, Hannedouche T, Houillier P, Izzedine H, Janner M, Karras A, Knebelmann B, Lavocat MP, Lemoine S, Leroy V, Loirat C, Macher MA, Martin-Coignard D, Morin D, Niaudet P, Nivet H, Nobili F, Novo R, Faivre L, Rigothier C, Roussey-Kesler G, Salomon R, Schleich A, Sellier-Leclerc AL, Soulami K, Tiple A, Ulinski T, Vanhille P, Van Regemorter N, Jeunemaître X, and Vargas-Poussou R

Subjects
Animals, Chloride Channels chemistry, Chloride Channels metabolism, Cohort Studies, Dent Disease metabolism, Genetic Association Studies, Humans, Male, Mice, Mice, Knockout, Pedigree, Chloride Channels genetics, Dent Disease genetics, Mutation
Abstract

Dent disease is a rare X-linked tubulopathy characterized by low molecular weight proteinuria, hypercalciuria, nephrocalcinosis and/or nephrolithiasis, progressive renal failure, and variable manifestations of other proximal tubule dysfunctions. It often progresses over a few decades to chronic renal insufficiency, and therefore molecular characterization is important to allow appropriate genetic counseling. Two genetic subtypes have been described to date: Dent disease 1 is caused by mutations of the CLCN5 gene, coding for the chloride/proton exchanger ClC-5; and Dent disease 2 by mutations of the OCRL gene, coding for the inositol polyphosphate 5-phosphatase OCRL-1. Herein, we review previously reported mutations (n = 192) and their associated phenotype in 377 male patients with Dent disease 1 and describe phenotype and novel (n = 42) and recurrent mutations (n = 24) in a large cohort of 117 Dent disease 1 patients belonging to 90 families. The novel missense and in-frame mutations described were mapped onto a three-dimensional homology model of the ClC-5 protein. This analysis suggests that these mutations affect the dimerization process, helix stability, or transport. The phenotype of our cohort patients supports and extends the phenotype that has been reported in smaller studies., (© 2015 WILEY PERIODICALS, INC.)

Published
2015
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30. Excellent long-term outcome of renal transplantation in cystinosis patients.

Author

Cohen C, Charbit M, Chadefaux-Vekemans B, Giral M, Garrigue V, Kessler M, Antoine C, Snanoudj R, Niaudet P, Kreis H, Legendre C, and Servais A

Subjects
Adolescent, Adult, Child, Cystinosis physiopathology, Humans, Kidney Failure, Chronic etiology, Treatment Outcome, Young Adult, Cystinosis complications, Kidney Failure, Chronic surgery, Kidney Transplantation
Abstract

Background: Cystinosis is a rare lysosomal disorder leading to end stage renal disease in more than 90 % of patients before 20 years of age. Data about safety and efficiency of renal transplantation in patients with cystinosis is scarce. We evaluated long-term outcomes of renal transplantation in adult patients with cystinosis., Methods: Data of renal transplantation (n = 31) in 30 adult patients with cystinosis in 5 French university transplant centers between 1980 and 2013 were retrospectively analyzed. A control cohort of 93 patients was matched for age, graft date, living/deceased donor status and transplant center., Results: Median age at transplantation was 20.4 years (7-36.5). At transplantation, all patients with cystinosis had corneal cystine deposits, 3 had diabetes and 7 had hypothyroidism. Graft survival was better in patients with cystinosis than in control patients (p = 0.013). Multivariate analysis confirmed that cystinosis was an independent protective factor for graft survival (Hazard Ratio (HR) 0.11; CI95 [0.02-0.61]). Specific complications of cystinosis occurred during follow up: diabetes mellitus (n = 4), hypothyroidism (n = 1), liver involvement (n = 1), neurologic involvement (n = 2). Proportion of post-transplant diabetes mellitus (PTDM) was not statistically different in cystinosis group compared to control group: 4 (13.0 %) compared to 5 (5.0 %), respectively (p = 0.25), with no differences regarding calcineurin inhibitors and steroids treatments during follow-up., Conclusions: Renal transplantation appears to be safe with excellent long-term outcomes in patients with cystinosis. These patients may receive standard immunosuppressive regimens with steroids and calcineurin inhibitors.

Published
2015
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