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103. Kidney Transplantation

Author

Broyer, M., Gagnadoux, M.-F., Niaudet, P., Haycock, G. B., Potter, D. E., Bunzendahl, H., Offner, G., Wonigeit, K., Brodehl, J., Pichlmayr, R., Brodehl, Johannes, editor, and Ehrich, Jochen H. H., editor

Published
1984
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107. Normal 25-Hydroxyvitamin D Levels Are Associated with Less Proteinuria and Attenuate Renal Failure Progression in Children with CKD

Author

Shroff R., Aitkenhead H., Costa N., Trivelli A., Litwin M., Picca S., Anarat A., Sallay P., Ozaltin F., Zurowska A., Jankauskiene A., Montini G., Charbit M., Schaefer F., Wühl E., Bakkaloglu A., Peco-Antic A., Querfeld U., Gellermann J., Drozdz D., Bonzel K.-E., Wingen A.-M., Balasz I., Perfumo F., Müller-Wiefel D.E., Möller K., Offner G., Enke B., Gimpel C., Mehls O., Emre S., Caliskan S., Mir S., Wygoda S., Hohbach-Hohenfellner K., Jeck N., Klaus G., Ardissino G., Testa S., Niaudet P., Caldas-Afonso A., Fernandes-Teixeira A., Duek J., Matteucci M.C., 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., Janas R., Laube G., Neuhaus T.J., Çukurova Üniversitesi, Çocuk Sağlığı ve Hastalıkları, and Ege Üniversitesi

Subjects
Male, Vitamin, medicine.medical_specialty, Adolescent, Medizin, 030232 urology & nephrology, Diastole, Renal function, Angiotensin-Converting Enzyme Inhibitors, 030204 cardiovascular system & hematology, urologic and male genital diseases, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Clinical Research, Reference Values, Internal medicine, Renin–angiotensin system, medicine, Vitamin D and neurology, Humans, Renal Insufficiency, Renal Insufficiency, Chronic, Vitamin D, Child, Klotho, Retrospective Studies, Creatinine, Proteinuria, business.industry, ComputerSystemsOrganization_COMPUTER-COMMUNICATIONNETWORKS, General Medicine, Urology & Nephrology, ComputingMilieux_MANAGEMENTOFCOMPUTINGANDINFORMATIONSYSTEMS, Fibroblast Growth Factor-23, ComputingMethodologies_PATTERNRECOGNITION, Endocrinology, chemistry, Nephrology, Disease Progression, Female, InformationSystems_MISCELLANEOUS, medicine.symptom, business
Abstract

PubMed ID: 26069294, Angiotensin-converting enzyme inhibitors (ACEi) for renin-angiotensin-aldosterone system (RAAS) blockade are routinely used to slow CKD progression. However, Vitamin D may also promote renoprotection by suppressing renin transcription through cross-talk between RAAS and Vitamin D -fibroblast growth factor-23 (FGF-23)-Klotho pathways. To determine whether Vitamin D levels influence proteinuria and CKD progression in children, we performed a post hoc analysis of the Effect of Strict Blood Pressure Control and ACE Inhibition on Progression of CKD in Pediatric Patients (ESCAPE) cohort. In 167 children (median EGFR 51 ml/min per 1.73 m2), serum 25-hydroxyvitaminD(25(OH)D),FGF-23, andKlotho levelsweremeasuredatbaselineandafteramedian8months onACEi.Childrenwith lower 25(OH)D levels had higher urinary protein/creatinine ratios at baseline (P=0.03) and at follow-up (P=0.006). Levels of 25(OH)D and serum Vitamin D -binding protein were not associated, but 25(OH)D #50 nmol/L associated with higher diastolicBP(P=0.004).ACEi therapy alsoassociatedwith increasedKlotho levels (P

Published
2016

108. 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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109. 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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110. 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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111. Mutations in BCS1, a mitochondrial respiratory chain assembly gene, are responsible for complex III deficiency in patients with tubulopathy, encephalopathy and liver failure

Author

de Lonlay, P., Valnot, I., Barrientos, A., Gorbatyu, M., Tzagoloff, A., Taanman, J.W., Chretien, D., Kadhom, N., Lombes, A., de Baulny, H. Ogier, Niaudet, P., Munnich, A., Rustin, P., and Rotig, A.

Subjects
Gene mutations -- Research, Genetic disorders -- Research, Encephalopathy -- Genetic aspects, Liver failure -- Genetic aspects, Biological sciences
Published
2001

112. Allo-Immune Membranous Nephropathy and Recombinant Aryl Sulfatase Replacement Therapy: A Need for Tolerance Induction Therapy

Author

Laure-Hélène Noël, Vassili Valayannopoulos, Pierre Ronco, Niaudet P, Olivia Boyer, Patrice Callard, Pascale de Lonlay, Hanna Debiec, Hélène Sarda, Remodelage et Reparation du Tissu Renal, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de référence pour les maladies métaboliques héréditaires [CHU Necker Enfants Malades - AP-HP], Université Paris Descartes - Paris 5 (UPD5)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Néphropathies héréditaires et rein en développement (UMR_S 983), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Necker - Enfants Malades [AP-HP], Centre de recherche Croissance et signalisation (UMR_S 845), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), CHU Tenon [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service de Pédiatrie [CH René Dubos, Pontoise], Centre Hospitalier René Dubos [Pontoise], Research is supported by European Research Council Grant ERC-2012-ADG_20120314 (Grant Agreement 322947), Agence Nationale pour la Recherche Programme Blanc SVSE1 (2012) Decision ANR-12-BSE1-0002-01, Fondation pour la Recherche Médicale Equipe FRM 2012 grant, and 7th Framework Programme of the European Community Contract 2012-305608 (European Consortium for High-Throughput Research in Rare Kidney Diseases)., European Project: 322947,EC:FP7:ERC,ERC-2012-ADG_20120314,OSAI(2013), European Project: 305608,EC:FP7:HEALTH,FP7-HEALTH-2012-INNOVATION-1,EURENOMICS(2012), Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service d'anatomie pathologique [CHU Necker], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de pédiatrie, Hopital Réné Dubos-CH Pontoise, European Research Council Grant ERC-2012-ADG_20120314 (Grant Agreement 322947), Agence Nationale pour la Recherche Programme Blanc SVSE1 (2012) Decision ANR-12-BSE1-0002-01, Fondation pour la Recherche Médicale Equipe FRM 2012 grant, and 7th Framework Programme of the European Community Contract 2012-305608 (European Consortium for High-Throughput Research in Rare KidneyDiseases)., Service de Néphrologie et Dialyses [CHU Tenon], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Tenon [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service de Pathologie [CHU Tenon], RONCO, Pierre, Membranous nephropathy : a model for solving organ-specific auto-immunity (OSAI) - OSAI - - EC:FP7:ERC2013-05-01 - 2018-04-30 - 322947 - VALID, European Consortium for High-Throughput Research in Rare Kidney Diseases - EURENOMICS - - EC:FP7:HEALTH2012-10-01 - 2017-09-30 - 305608 - VALID, Service de Département de Néphrologie = Service de Néphrologie et Dialyses [CHU Tenon], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Université Pierre et Marie Curie - Paris 6 ( UPMC ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Imagine - Institut des maladies génétiques ( IMAGINE - U1163 ), Centre National de la Recherche Scientifique ( CNRS ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université Paris Descartes - Paris 5 ( UPD5 ), Néphropathies héréditaires et rein en développement ( UMR_S 983 ), CHU Necker - Enfants Malades [AP-HP]-Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Assistance publique - Hôpitaux de Paris (AP-HP), Centre de recherche Croissance et signalisation ( UMR_S 845 ), Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Service de Pathologie, Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Tenon [APHP], Service de néphrologie, Université Pierre et Marie Curie - Paris 6 ( UPMC ) -Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Tenon [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)

Subjects
Male, N-Acetylgalactosamine-4-Sulfatase, Mucopolysaccharidosis type VI, MESH: Glomerulonephritis, Membranous, MESH : Child, Preschool, MESH : N-Acetylgalactosamine-4-Sulfatase, Gastroenterology, Glomerulonephritis, Membranous, MESH: Recombinant Proteins, 0302 clinical medicine, Isoantibodies, Medicine, MESH : Glomerulonephritis, Membranous, MESH: Enzyme Replacement Therapy, 0303 health sciences, Proteinuria, Mucopolysaccharidosis VI, MESH : Enzyme Replacement Therapy, MESH : Immune Tolerance, Glomerulonephritis, General Medicine, Enzyme replacement therapy, Recombinant Proteins, 3. Good health, Tolerance induction, Nephrology, [ SDV.BBM.GTP ] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], Child, Preschool, [SDV.BBM.GTP] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], medicine.symptom, Brief Communications, medicine.medical_specialty, MESH: Immune Tolerance, MESH: Mucopolysaccharidosis VI, MESH : Recombinant Proteins, MESH : Male, MESH : Isoantibodies, MESH: N-Acetylgalactosamine-4-Sulfatase, Nephropathy, 03 medical and health sciences, Membranous nephropathy, Internal medicine, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], Immune Tolerance, Humans, Enzyme Replacement Therapy, 030304 developmental biology, MESH: Humans, business.industry, MESH : Humans, MESH: Child, Preschool, medicine.disease, MESH: Isoantibodies, MESH: Male, MESH : Mucopolysaccharidosis VI, Immunology, business, Nephrotic syndrome, 030217 neurology & neurosurgery
Abstract

International audience; Nephrotic syndrome was reported in a highly-sensitized patient receiving enzyme replacement therapy (ERT) for Pompe disease, but the prevalence of ERT-induced renal complications and mechanisms to facilitate readministration of ERT in these patients remain unexplored. This work identifies a new antigen responsible for secondary membranous nephropathy (MN) in a patient with mucopolysaccharidosis type VI caused by aryl sulfatase B (ASB) deficiency. ERT (recombinant human ASB [rhASB]; 1 mg/kg per week) started at the age of 4 years led to a high anti-rhASB titer and dramatically improved clinical manifestations. However, 16 months later, the patient suddenly developed nephrotic syndrome resistant to steroid therapy 1 week after orthopedic surgery. Examination of the kidney biopsy specimen revealed glomerular deposition of IgG (mostly IgG4, C3, and C5b-9) in a granular pattern typical of MN. Double immunofluorescence staining showed that subepithelial granular deposits contained rhASB colocalized with IgG. Ig eluted from the patient's biopsy specimen reacted specifically with rhASB. On discontinuation of ERT, proteinuria progressively decreased, but the patient's clinical condition markedly deteriorated. Induction of tolerance to rhASB was initiated by coadministration of low-dose corticosteroids, rituximab, intravenous Igs, and oral methotrexate. ERT was resumed 8 weeks after starting immunosuppressive therapy without inducing a rebound of antibody titer or an increase in proteinuria. We conclude that the allo-immune response to the recombinant rhASB caused the nephropathy. Considering the critical requirement for ERT in patients with such enzyme deficiencies, immune tolerance induction should be advocated in the patients with allo-immune MN.

Published
2014
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113. WT1 splice-site mutations are rarely associated with primary steroid-resistant focal and segmental glomerulosclerosis

Author

Marie Claire Gubler, Marc Fellous, Michel Peuchmaur, Niaudet P, Chantal Loirat, Véronique Baudouin, Erick Denamur, Francis Da Silva, Jacques Elion, Reiner A. Veitia, and Nathalie Bocquet

Subjects
Male, medicine.medical_specialty, Pathology, Adolescent, RNA Splicing, Gonadoblastoma, Wilms' tumor gene, Biology, urologic and male genital diseases, Focal Glomerulonephritis, Exon, Focal segmental glomerulosclerosis, Adrenal Cortex Hormones, Internal medicine, medicine, Humans, Child, WT1 Proteins, focal segmental glomerulosclerosis, Glomerulosclerosis, Focal Segmental, nephrotic syndrome, urogenital system, Infant, Glomerulosclerosis, splice-site mutations, Wilms' tumor, Exons, medicine.disease, female genital diseases and pregnancy complications, Frasier syndrome, DNA-Binding Proteins, Endocrinology, Nephrology, Child, Preschool, Mutation, Female, Nephrotic syndrome, Transcription Factors
Abstract

WT1 splice-site mutations are rarely associated with primary steroid-resistant focal and segmental glomerulosclerosis.BackgroundDonor splice-site de novo heterozygous mutations in intron 9 of the Wilms' tumor gene (WT1) have been reported in Frasier syndrome, which is defined by the association of focal and segmental glomerulosclerosis (FSGS), male pseudohermaphroditism, and gonadoblastoma. These splice-site mutations alter theWT1 alternative splicing leading to twoWT1 isoforms, with (+) or without (-) three amino acids, lysine-threonine-serine (KTS), between zinc fingers 3 and 4. The aim of this work was to investigate the possibility that some cases of primary steroid-resistant nephrotic syndrome associated with FSGS may be caused byWT1 splice-site mutations.MethodsWe analyzedWT1 exons 8 and 9 and the surrounding exon/intron boundary DNA sequences in 37 children with nonfamilial primary steroid-resistant nephrotic syndrome. Semiquantitative reverse transcription-polymerase chain reaction (RT-PCR) was used to determine the relative ratio of +KTS/-KTS transcripts from immortalized lymphocyte RNA.ResultsOne boy with FSGS and associated pathologies (diaphragmatic hernia, proximal hypospadias, and unilateral testicular ectopia) was found to carry the heterozygous 1228 +4 C→T splice-site mutation. RT-PCR quantitation of the +KTS/-KTS transcripts from immortalized lymphocyte RNA of this patient showed a diminution of the +KTS/-KTS isoform ratio (0.43), which is identical to that reported in patients with Frasier syndrome. Using the same approach, healthy control subjects have +KTS/-KTS ratios ranging from 1.50 to 2.00.ConclusionsThis study expands the range of the phenotypic presentation of the intron 9 splice-siteWT1 mutations and adds to the already reported heterogeneity of primary steroid-resistant nephrotic syndromes. We suggest that these mutations are not likely to be a common cause of isolated steroid-resistant nephrotic syndrome, and recommend aWT1 exon 9/intron 9 splice-site study in children with primary steroid-resistant nephrotic syndrome if genital or diaphragmatic anomalies are associated. The identification of suchWT1 mutations has practical implications for the management of these patients.

Published
2000
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115. Controversies and research agenda in nephropathic cystinosis: conclusions from a “Kidney Disease: Improving Global Outcomes” (KDIGO) Controversies Conference

Author

Langman, C., Barshop, B., Deschênes, G., Emma, F., Goodyer, P., Lipkin, G., Midgley, J., Ottolenghi, C., Servais, A., Soliman, N., Thoene, J., Levtchenko, E., Amon, O., Ariceta, G., Basurto, M., Belmont-Martínez, L., Bertholet-Thomas, A., Bos, M., Brown, T., Cherqui, S., Cornelissen, E., Del Monte, M., Ding, J., Dohil, R., Doyle, M., Elenberg, E., Gahl, W., Gomez, V., Greco, M., Greeley, C., Greenbaum, L., Grimm, P., Hohenfellner, K., Holm, T., Hotz, V., Janssen, M., Kaskel, F., Magriço, R., Nesterova, G., Newsholme, Philip, Niaudet, P., Rioux, P., Sarwal, M., Schneider, J., Topaloglu, R., Trauner, D., Vaisbich, M., van den Heuvel, L., Van't Hoff, W., Langman, C., Barshop, B., Deschênes, G., Emma, F., Goodyer, P., Lipkin, G., Midgley, J., Ottolenghi, C., Servais, A., Soliman, N., Thoene, J., Levtchenko, E., Amon, O., Ariceta, G., Basurto, M., Belmont-Martínez, L., Bertholet-Thomas, A., Bos, M., Brown, T., Cherqui, S., Cornelissen, E., Del Monte, M., Ding, J., Dohil, R., Doyle, M., Elenberg, E., Gahl, W., Gomez, V., Greco, M., Greeley, C., Greenbaum, L., Grimm, P., Hohenfellner, K., Holm, T., Hotz, V., Janssen, M., Kaskel, F., Magriço, R., Nesterova, G., Newsholme, Philip, Niaudet, P., Rioux, P., Sarwal, M., Schneider, J., Topaloglu, R., Trauner, D., Vaisbich, M., van den Heuvel, L., and Van't Hoff, W.

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

117. Software and database for the analysis of mutations in the human WT1 gene

Author

Jeanpierre, C, Béroud, C, Niaudet, P, and Junien, C

Subjects
Male, Genes, Wilms Tumor, Databases, Factual, DNA Mutational Analysis, Zinc Fingers, DNA-Binding Proteins, Computer Communication Networks, Mutation, Genetics, Humans, Female, WT1 Proteins, Software, Research Article, Transcription Factors
Abstract

The WT1 gene, located at 11p13, encodes a zinc finger transcription factor involved in renal and gonadal development and in Wilms' tumor. Constitutional mutations of this gene have been described in most patients with Denys Drash syndrome (mesangial sclerosis associated with male pseudohermaphrodism and/or Wilms' tumor), but also in patients with genitourinary abnormalities and Wilms' tumor (WT) or presenting with only unilateral or bilateral WT. Moreover, approximately 10% of Wilms' tumors carry WT1 mutations at the somatic level. To facilitate the genotype-phenotype correlation analyses, we have created a software package along with a computerized database of germline (70 entries) and somatic (28 entries) mutations reported in the literature.

Published
1998
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118. Mutations in the vasopressin V2 receptor and aquaporin-2 genes in 12 families with congenital nephrogenic diabetes insipidus

Author

Vargas-Poussou R, Forestier L, Md, Dautzenberg, Niaudet P, Déchaux M, and Corinne ANTIGNAC

Subjects
Adult, Male, Receptors, Vasopressin, X Chromosome, Genotype, DNA Mutational Analysis, Diabetes Insipidus, Nephrogenic, Aquaporins, Polymerase Chain Reaction, Ion Channels, Consanguinity, Genetic Heterogeneity, Humans, Point Mutation, Deamino Arginine Vasopressin, Kidney Tubules, Collecting, Child, Frameshift Mutation, Polymorphism, Single-Stranded Conformational, Sequence Deletion, Aquaporin 2, Chromosomes, Human, Pair 12, urogenital system, Osmolar Concentration, Sequence Analysis, DNA, General Medicine, Aquaporin 6, Pedigree, Genes, Nephrology, Female
Abstract

Congenital nephrogenic diabetes insipidus (CNDI) is a rare inherited disorder characterized by renal tubular insensitivity to the antidiuretic effect of arginine vasopressin (AVP). In a large majority of the cases, nephrogenic diabetes insipidus is an X-linked recessive disorder caused by mutations in the AVP V2 receptor gene (AVPR2). In the remaining cases, the disease is autosomal recessive or dominant and, for these patients, mutations in the aquaporin 2 gene (AQP2) have been reported. Fourteen probands belonging to 12 families were analyzed by single-strand conformational polymorphism and direct sequencing of the AVPR2 and AQP2 genes. Ten mutations of the AVPR2 gene (six previously reported mutations and four novel mutations: G107E, W193X, L43P, and 15delC) were identified. Three mutations of the AQP2 gene were also identified in two patients: the first patient is homozygous for the R85X mutation and the second is a compound heterozygote for V168 M and S216P mutations. Extrarenal responses to infusion of the strong V2 agonist 1-desamino-8-D-arginine vasopressin allowed AVPR2- and AQP2-associated forms of CNDI to be distinguished in three patients. This test also identified an unexpectedly high urinary osmolality (614 mosmol/kg) in a patient with a P322S mutation of AVPR2 gene and a mild form of CNDI.

Published
1997
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119. Mutations in the gene encoding the inwardly-rectifying renal potassium channel, ROMK, cause the antenatal variant of Barrter syndrome : evidence for genetic heterogeneity

Author

Károlyi, L., Konrad, M., Köckerling, A., Ziegler, A., Zimmermann, D.K., Roth, B., Wieg, C., Grzeschik, K.H., Koch, M.C., Seyberth, H.W., Vargas, R., Forestier, C., Jean, G., Deschaux, M., Rizzoni, G.F., Niaudet, P., Antignac, C., Feldmann, D., Lorridon, F., Cougoureux, E., Laroze, F., Alessandri, J.-L., David, L., Saunier, P., Deschenes, G., Hildebrandt, F., Vollmer, M., Proesmans, W., Brandis, M., Heuvel, L.P.W.J. van den, Lemmink, H.H., Nillesen, W., Monnens, L.A.H., Knoers, N.V.A.M., Guay-Woodford, L.M., Wright, C.J., Madrigal, G., and Hebert, S.C.

Subjects
Cultured, Ion Transport, Cells, Molecular, Molecular Probe Techniques, Hospitalized, Kidney, Kidney Function Tests, Urogenital Abnormalities (Non MeSH), Basement Membrane, Urethra, Urethral Diseases, Cell Adhesion, Kidney Diseases, Endothelium, Cloning, Molecular, Child, Gram-Negative Bacterial Infections, GeneralLiterature_REFERENCE(e.g.,dictionaries,encyclopedias,glossaries), Child, Hospitalized, Peritoneal Dialysis, Cells, Cultured, Cloning
Abstract

Contains fulltext : 24466___.PDF (Publisher’s version ) (Open Access)

Published
1997

125. 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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126. JOINT EULAR/ERA-EDTA RECOMMENDATIONS FOR THE MANAGEMENT OF ADULT AND PEDIATRIC LUPUS NEPHRITIS

Author

Bertsias, G. Tektonidou, M. Amoura, Z. Aringer, M. and Bajema, I. Berden, J. Boletis, J. Cervera, R. Doerner, T. Doria, A. Ferrario, F. Floege, J. Houssiau, F. and Ioannidis, J. P. Isenberg, D. Kallenberg, C. G. Lightstone, L. Marks, S. Martini, A. Moroni, G. Neumann, I. and Niaudet, P. Praga, M. Schneider, M. Tesar, V. and Vasconcelos, C. van Vollenhoven, R. Zakharova, E. Haubitz, M. Gordon, C. Jayne, D. Boumpas, D.

Published
2013

127. Cystinosin is a melanosomal protein that regulates melanin synthesis

Author

Pierre Cochat, Christine Chiaverini, E. Fontas, Jean Paul Ortonne, Niaudet P, Michel Foulard, François Xavier Bernard, Kazumasa Wakamatsu, Mauro Picardo, Shosuke Ito, Robert Ballotti, Guest G, Enrica Flori, Mathilde Cailliez, Stefania Briganti, Corinne Antignac, Etienne Bérard, and L. Sillard

Subjects
Adult, Male, medicine.medical_specialty, Adolescent, Tyrosinase, Cystinosis, Cystine, Skin Pigmentation, Biology, Melanocyte, Biochemistry, Melanin, chemistry.chemical_compound, Mice, Young Adult, Internal medicine, Cell Line, Tumor, Genetics, medicine, Animals, Humans, Child, Molecular Biology, Melanosome, Melanins, Mice, Knockout, Melanosomes, Reverse Transcriptase Polymerase Chain Reaction, medicine.disease, Endocrinology, medicine.anatomical_structure, Amino Acid Transport Systems, Neutral, chemistry, Cystinosin, Child, Preschool, Symporter, Mutation, Female, Biotechnology
Abstract

Cystinosis is a rare autosomal recessive disease characterized by cystine crystal accumulation leading to multiorgan dysfunctions and caused by mu- tation in CTNS. CTNS encodes cystinosin, a cystine/H symporter that exports cystine out of the lysosomes. Patients with cystinosis frequently exhibit blond hair and fair complexion, suggesting an alteration in mela- nogenesis. However, the pigmentation singularities of these patients have not been studied, and the role of cystinosin in melanogenesis has remained unknown. In our study, a clinical evaluation of 27 patients with cystinosis showed that 44% had a cutaneous pigmenta- tion dilution compared to their relatives. Analysis of the hair melanin content in these patients by HPLC dem- onstrated a 50% decrease in eumelanin (4360 vs. 9360 ng/mg), and a 2-fold increase in pheomelanin (53 vs. 20 ng/mg), the yellow/red pigments. Cystinosin-deficient mice also showed a 4-fold increase in hair pheomelanin content. In vitro studies showed that cystinosin was located at melanosomes. CTNS silencing led to a 75% reduction of melanin synthesis that was caused by a degradation of tyrosinase by lysosomal proteases. Our results objectify the pigmentation defect in patients with cystinosis. We also identify the role of CTNS in melanogenesis and add a new gene to the list of the genes involved in the control of skin and hair pigmen- tation.—Chiaverini, C., Sillard, L., Flori, E., Ito, S., Briganti, S., Wakamatsu, K., Fontas, E., Berard, E., Cailliez, M., Cochat, P., Foulard, M., Guest, G., Niau- det, P., Picardo, M., Bernard, F.-X., Antignac, C., Ortonne, J. P., Ballotti, R. Cystinosin is a melanosomal protein that regulates melanin synthesis. FASEB J. 26, 000 - 000 (2012). www.fasebj.org

Published
2012

128. Papillary stones with Randall's plaques in children: clinicobiological features and outcome

Author

Olivia Boyer, François Nobili, Gandon Laloum Sylvie, Karim Bouchireb, Michel Daudon, Hubert Nivet, Rémi Salomon, Hélène Martelli, Olivier Dunand, Niaudet P, and Christine Pietrement

Subjects
Male, medicine.medical_specialty, Adolescent, MEDLINE, Kidney Calculi, X ray computed, medicine, Humans, Disease management (health), Child, Retrospective Studies, Transplantation, Kidney Medulla, Calcium Oxalate, business.industry, Follow up studies, Infant, Newborn, Disease Management, Infant, Retrospective cohort study, Prognosis, Multicenter study, Nephrology, Child, Preschool, Female, Radiology, business, Tomography, X-Ray Computed, Follow-Up Studies
Published
2011

129. CO-58 – Syndrome néphrotique congénital: une étude multicentrique française

Author

Berody, S., primary, Salomon, R., additional, Niaudet, P., additional, Heidet, L., additional, Baudouin, V., additional, Boudaillez, B., additional, de Parscau, L., additional, Dunand, O., additional, Flodrops, H., additional, Fila, M., additional, Garnier, A., additional, Harambat, J., additional, Louillet, F., additional, Merieau, E., additional, May, A., additional, Pietrement, C., additional, Rousset-Rouvière, C., additional, Rousset, G., additional, Tenenbaum, J., additional, Taque, S., additional, Ulinski, T., additional, Vieux, R., additional, Zaloszyc, A., additional, Antignac, C., additional, Baccheta, J., additional, Pierrepont, S., additional, Dehennault, M., additional, and Boyer, O., additional

Published
2015
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130. Therapeutic approach to focal and segmental glomerulosclerosis recurrence in kidney transplant recipients

Author

Christophe Legendre, Frank Martinez, Laure-Hélène Noël, Marie-France Mamzer, Niaudet P, and Guillaume Canaud

Subjects
medicine.medical_specialty, Pathology, Urology, urologic and male genital diseases, Podocyte, Therapeutic approach, Recurrence, Risk Factors, medicine, Humans, Immunoadsorption, Kidney transplantation, Transplantation, Proteinuria, Plasma Exchange, urogenital system, Primary Focal Segmental Glomerulosclerosis, business.industry, Glomerulosclerosis, Focal Segmental, Glomerulosclerosis, medicine.disease, Actin cytoskeleton, Kidney Transplantation, female genital diseases and pregnancy complications, medicine.anatomical_structure, Cyclosporine, Steroids, medicine.symptom, business
Abstract

Primary focal segmental glomerulosclerosis (FSGS) leads to end-stage renal disease in a high proportion of cases. The recurrence of FSGS after kidney transplantation is frequent (20%-40%) and associated with poor graft survival. The pathophysiology of primary FSGS remains uncertain, but secretion of a circulating factor is suspected to play a key role in excessive glomerular permeability. The treatment of recurrence is still controversial, and most reports related to use of plasma exchange have been uncontrolled trials with relatively small groups of patients and conflicting results. Plasma exchange and protein immunoadsorption can markedly reduce urinary protein excretion and induce complete remission in some cases but usually fail to achieve sustained remission. Steroids and high-dose cyclosporine can reduce proteinuria based on their immunosuppressive properties and through stabilization of the podocyte actin cytoskeleton. Recent advances in our understanding of primary FSGS and podocyte function open the way to more targeted therapies. This review summarizes the therapeutic approach to FSGS recurrence.

Published
2010

137. Nephropathic cystinosis: an international consensus document

Author

Emma, F., Nesterova, G., Langman, C., Labbe, A., Cherqui, S., Goodyer, P., Janssen, M.C., Greco, M., Topaloglu, R., Elenberg, E., Dohil, R., Trauner, D., Antignac, C., Cochat, P., Kaskel, F., Servais, A., Wuhl, E., Niaudet, P., Hoff, W. van 't, Gahl, W., Levtchenko, E.N., Emma, F., Nesterova, G., Langman, C., Labbe, A., Cherqui, S., Goodyer, P., Janssen, M.C., Greco, M., Topaloglu, R., Elenberg, E., Dohil, R., Trauner, D., Antignac, C., Cochat, P., Kaskel, F., Servais, A., Wuhl, E., Niaudet, P., Hoff, W. van 't, Gahl, W., and Levtchenko, E.N.

Abstract

Contains fulltext : 136370.pdf (publisher's version ) (Closed access), Cystinosis is caused by mutations in the CTNS gene (17p13.2), which encodes for a lysosomal cystine/proton symporter termed cystinosin. It is the most common cause of inherited renal Fanconi syndrome in young children. Because of its rarity, the diagnosis and specific treatment of cystinosis are frequently delayed, which has a significant impact on the overall prognosis. In this document, we have summarized expert opinions on several aspects of the disease to improve knowledge and provide guidance for diagnosis and treatment.

Published
2014

138. Quality of Life is Improved and Kidney Function Preserved in Patients with Nephropathic Cystinosis Treated for 2 Years with Delayed-Release Cysteamine Bitartrate

Author

Langman, C.B., Greenbaum, L.A., Grimm, P., Sarwal, M., Niaudet, P., Deschenes, G., Cornelissen, E.A.M., Morin, D., Cochat, P., Elenberg, E., Hanna, C., Gaillard, S., Bagger, M.J., Rioux, P., Langman, C.B., Greenbaum, L.A., Grimm, P., Sarwal, M., Niaudet, P., Deschenes, G., Cornelissen, E.A.M., Morin, D., Cochat, P., Elenberg, E., Hanna, C., Gaillard, S., Bagger, M.J., and Rioux, P.

Abstract

Contains fulltext : 136631.pdf (publisher's version ) (Open Access), OBJECTIVES: To determine the long-term effects of delayed-release cysteamine bitartrate (DR-CYS) based on our previous work that established the short-term noninferiority of DR-CYS every 12 hours compared with immediate-release cysteamine bitartrate every 6 hours. STUDY DESIGN: We conducted a prospective, controlled, open label, single-arm study of DR-CYS for 2 years in 40 patients to assess efficacy in depletion of cystine in peripheral white blood cells, to assess the dose required to maintain white blood cell content of cystine <1 nmol (1/2) cystine/mg protein, to measure quality of life using the Pediatric Quality of Life Inventory, change in estimated glomerular filtration rate, and change in height Z-score. RESULTS: Through 24 months of study, the mean white blood cell content of cystine was always <1 nmol (1/2) cystine/mg protein, and the dose of DR-CYS decreased from 43.5-40.1 mg/kg/d (P = .05), and the significant improvement in social function, school function, and in total function scores on the Pediatric Quality of Life Inventory remained. The estimated glomerular filtration rate was maintained and growth velocity was maintained at 24 months compared with the baseline height Z-score. CONCLUSIONS: The use of a DR-CYS administered every 12 hours to patients with cystinosis is of great benefit to their quality of life and to important biomarkers of disease control, when studied in a prospective, controlled fashion. We suggest that DR-CYS should be considered for substrate depletion in patients with cystinosis.

Published
2014

141. Long-term results of combined liver-kidney transplantation for Primary Hyperoxaluria Type 1: The French experience

Author

Compagnon, P., primary, Metzler, P., additional, Samuel, D., additional, Camus, CH., additional, Niaudet, P., additional, Durrbach, A., additional, Lang, P., additional, Azoulay, D., additional, Duvoux, C., additional, Bayle, F., additional, Rivalan, J., additional, Merville, P., additional, pascal, G, additional, Thervet, E., additional, Bensman, A., additional, Rostaing, L., additional, Deschenes, G., additional, Feray, C., additional, and Boudjema, K., additional

Published
2014
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143. 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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144. Timing and Outcome of Renal Replacement Therapy in Patients with Congenital Malformations of the Kidney and Urinary Tract

Author

Wuhl, E., Stralen, K.J. van, Verrina, E., Bjerre, A., Wanner, C., Heaf, J.G., Zurriaga, O., Hoitsma, A.J., Niaudet, P., Palsson, R., Ravani, P., Jager, K.J., Schaefer, F., Wuhl, E., Stralen, K.J. van, Verrina, E., Bjerre, A., Wanner, C., Heaf, J.G., Zurriaga, O., Hoitsma, A.J., Niaudet, P., Palsson, R., Ravani, P., Jager, K.J., and Schaefer, F.

Abstract

Item does not contain fulltext, BACKGROUND AND OBJECTIVES: Congenital anomalies of the kidney and urinary tract (CAKUT) are the leading cause of ESRD in children, but the proportion of patients with individual CAKUT entities progressing to ESRD during adulthood and their long-term clinical outcomes are unknown. This study assessed the age at onset of renal replacement therapy (RRT) and patient and renal graft survival in patients with CAKUT across the entire age range. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: Patients with CAKUT were compared with age-matched patients who were undergoing RRT for other renal disorders on the basis of data from the European Renal Association-European Dialysis and Transplant Association Registry. Competing risk and Cox regression analyses were conducted. RESULTS: Of 212,930 patients commencing RRT from 1990 to 2009, 4765 (2.2%) had renal diagnoses consistent with CAKUT. The proportion of incident RRT patients with CAKUT decreased from infancy to childhood and then increased until age 15-19 years, followed by a gradual decline throughout adulthood. Median age at RRT start was 31 years in the CAKUT cohort and 61 years in the non-CAKUT cohort (P<0.001). RRT was started earlier (median, 16 years) in patients with isolated renal dysplasia than in those with renal hypoplasia and associated urinary tract disorders (median, 29.5-39.5 years). Patients with CAKUT survived longer than age- and sex-matched non-CAKUT controls because of lower cardiovascular mortality (10-year survival rate, 76.4% versus 70.7%; P<0.001). CONCLUSIONS: CAKUT leads to ESRD more often at adult than pediatric age. Treatment outcomes differ from those of acquired kidney diseases and vary within CAKUT subcategories.

Published
2013

145. RET proto-oncogene: role in kidney development and molecular pathology

Author

Salomon R, Attie T, Amiel J, Pelet A, Niaudet P, and Stanislas Lyonnet

Subjects
Gene Rearrangement, Mice, Knockout, Glial Cell Line-Derived Neurotrophic Factor Receptors, Receptors, Endothelin, Proto-Oncogene Proteins c-ret, Receptor Protein-Tyrosine Kinases, Multiple Endocrine Neoplasia Type 2a, Nerve Tissue Proteins, Kidney, Proto-Oncogene Mas, Receptor, Endothelin B, Mice, Proto-Oncogene Proteins, Mutation, Proto-Oncogenes, Animals, Drosophila Proteins, Humans, Glial Cell Line-Derived Neurotrophic Factor, Hirschsprung Disease, Nerve Growth Factors
Published
1999

147. [Genetics and nephrotic syndrome]

Author

Niaudet P, Broyer M, Mc, Gubler, Jeanpierre C, Barbaux S, and Corinne ANTIGNAC

Subjects
Nephrotic Syndrome, Karyotyping, Chromosome Mapping, Humans, Genetic Predisposition to Disease, Child
Published
1998

148. Novel mutations in the thiazide-sensitive NaCl cotransporter gene in patients with Gitelman syndrome with predominant localization to the C-terminal domain

Author

L.P.W.J. van den Heuvel, Henny H. Lemmink, Niaudet P, Hannsjoerg W. Seyberth, H.A. van Dijk, Nine V A M Knoers, L.A.H. Monnens, Lisa M. Guay-Woodford, A. Hermes, J.-C. Carel, Lothar Károlyi, Corinne Antignac, and Paul Goodyer

Subjects
C-terminal domain, Sodium Chloride Symporter Inhibitors, Molecular Sequence Data, Mutant, Hypokalemia, Biology, Benzothiadiazines, medicine.disease_cause, tubular disorder, Conserved sequence, medicine, Humans, Magnesium, Amino Acid Sequence, Allele, Diuretics, Gene, Peptide sequence, Genetics, Mutation, CLCNKB, Symporters, Syndrome, Gitelman syndrome, mutations, medicine.disease, SLC12A3 gene, Sodium Chloride Symporters, thiazide-sensitive Na-Cl cotransporter, Endocriene Regelmechanismen, Endocrine Control Mechanisms, Nephrology, biology.protein, Kidney Diseases, Carrier Proteins
Abstract

Novel mutations in the thiazide-sensitive NaCl cotransporter gene in patients with Gitelman syndrome. Gitelman syndrome (familial hypokalemia-hypomagnesemia syndrome) is an autosomal recessive inherited renal disorder characterized by defective tubular reabsorption of magnesium and potassium. In this study a group of 18 unrelated and 2 related Gitelman patients, collected from six different countries have been screened for mutations in the human thiazide-sensitive sodium-chloride cotransporter (SLC12A3) gene. Fourteen novel SLC12A3 mutations are presented along with six mutations described earlier, and three neutral polymorphisms. Among the tested patients are two who carry a total of three heterozygous SLC12A3 mutations. Two-thirds of the total number of mutant SLC12A3 alleles are amino acid substitutions. Most SLC12A3 gene mutations, 14 out of a total of 20, are localized at the intracellular carboxy-terminal domain of the NCCT protein. The pathogenicity of individual SLC12A3 mutations is based upon their predicted effect on SLC12A3 protein, and segregation in family members. Evolutionary conservation of substituted amino acid residues and their frequency in control chromosomes is presented. Identical mutations have been found in Gitelman families from different geographical origin, suggesting ancient mutations originating from a common ancestor. As yet, we have not found any evidence for a possible genotype-phenotype correlation.

Published
1998
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149. OP0064 Joint EULAR/ERA-EDTA recommendations for the management of adult and pediatric lupus nephritis

Author

Bertsias, G., primary, Tektonidou, M., additional, Amoura, Z., additional, Aringer, M., additional, Bajema, I., additional, Berden, J., additional, Boletis, J., additional, Cervera, R., additional, Dörner, T., additional, Doria, A., additional, Ferrario, F., additional, Flöge, J., additional, Houssiau, F., additional, Ioannidis, J.P., additional, Isenberg, D., additional, Kallenberg, C.G., additional, Lightstone, L., additional, Marks, S., additional, Martini, A., additional, Moroni, G., additional, Neumann, I., additional, Niaudet, P., additional, Praga, M., additional, Schneider, M., additional, Tesar, V., additional, Vasconcelos, C., additional, van Vollenhoven, R., additional, Zakharova, E., additional, Haubitz, M., additional, Gordon, C., additional, Jayne, D., additional, and Boumpas, D., additional

Published
2013
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150. Mutations in the gene encoding the inwardly-rectifying renal potassium channel, ROMK, cause the antenatal variant of Bartter syndrome: evidence for genetic heterogeneity. International Collaborative Study Group for Bartter-like Syndromes

Author

Georges Deschênes, Arnold Köckerling, Henny H. Lemmink, Willy M. Nillesen, Lisa M. Guay-Woodford, Dorthe K. Zimmermann, Lothar Károlyi, Christian Wieg, Lambertus P. van den Heuvel, Corinne Antignac, Karl-Heinz Grzeschik, Louis David, Christopher J. Wright, Pascal Saunier, Michele Deschaux, R. Vargas, Friedhelm Hildebrandt, Hannsjörg W. Seyberth, Andreas Ziegler, Nine V A M Knoers, Matthias Brandis, Lionel Forestier, Willem Proesmans, Emmanuel Cougoureux, Jean-Luc Alessandri, Steven C. Hebert, Manuela C. Koch, Martin Konrad, Delphine Feldmann, Gian Franco Rizzoni, Leo A. H. Monnens, Geneviève Jean, Gilbert Madrigal, Niaudet P, Frederique Lorridon, Martin Vollmer, and Bernd Roth

Subjects
medicine.medical_specialty, Potassium Channels, Genotype, DNA Mutational Analysis, Molecular Sequence Data, medicine.disease_cause, Bartter syndrome, Genetic Heterogeneity, Internal medicine, Genetics, medicine, Humans, Amino Acid Sequence, Potassium Channels, Inwardly Rectifying, Molecular Biology, Genetics (clinical), Mutation, CLCNKB, Kidney, biology, Genetic heterogeneity, Bartter Syndrome, Genetic Variation, General Medicine, medicine.disease, Potassium channel, Bartter's syndrome, medicine.anatomical_structure, Endocrinology, Genes, biology.protein, ROMK
Abstract

Inherited renal tubular disorders associated with hypokalemic alkalosis (Bartter-like syndromes) can be subdivided into at least three clinical phenotypes: (i) the hypocalciuric-hypomagnesemic Gitelman variant; (ii) the classic variant; and (iii) the antenatal hypercalciuric variant (also termed hyperprostaglandin E syndrome). Mutations in the Na-Cl cotransporter (NCCT) underlie the pathogenesis of the Gitelman variant and mutations in the Na-K-2Cl cotransporter (NKCC2) have recently been identified in the antenatal hypercalciuric variant. We now describe mutations in the gene encoding the inwardly-rectifying potassium channel, ROMK, in eight kindreds with the antenatal variant of Bartter syndrome. These findings indicate that antenatal Bartter syndrome is genetically heterogeneous and provide new insights into the molecular pathogenesis of Bartter-like syndromes.

Published
1997

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