{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,20]],"date-time":"2026-01-20T03:57:48Z","timestamp":1768881468522,"version":"3.49.0"},"reference-count":44,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"8","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JASN"],"published-print":{"date-parts":[[2017,8]]},"abstract":"<jats:p>Bartter syndrome type 3 is a clinically heterogeneous hereditary salt-losing tubulopathy caused by mutations of the chloride voltage-gated channel Kb gene (<jats:italic toggle=\"yes\">CLCNKB<\/jats:italic>), which encodes the ClC-Kb chloride channel involved in NaCl reabsorption in the renal tubule. To study phenotype\/genotype correlations, we performed genetic analyses by direct sequencing and multiplex ligation-dependent probe amplification and retrospectively analyzed medical charts for 115 patients with <jats:italic toggle=\"yes\">CLCNKB<\/jats:italic> mutations. Functional analyses were performed in <jats:italic toggle=\"yes\">Xenopus laevis<\/jats:italic> oocytes for eight missense and two nonsense mutations. We detected 60 mutations, including 27 previously unreported mutations. Among patients, 29.5% had a phenotype of ante\/neonatal Bartter syndrome (polyhydramnios or diagnosis in the first month of life), 44.5% had classic Bartter syndrome (diagnosis during childhood, hypercalciuria, and\/or polyuria), and 26.0% had Gitelman-like syndrome (fortuitous discovery of hypokalemia with hypomagnesemia and\/or hypocalciuria in childhood or adulthood). Nine of the ten mutations expressed <jats:italic toggle=\"yes\">in vitro<\/jats:italic> decreased or abolished chloride conductance. Severe (large deletions, frameshift, nonsense, and essential splicing) and missense mutations resulting in poor residual conductance were associated with younger age at diagnosis. Electrolyte supplements and indomethacin were used frequently to induce catch-up growth, with few adverse effects. After a median follow-up of 8 (range, 1\u201341) years in 77 patients, chronic renal failure was detected in 19 patients (25%): one required hemodialysis and four underwent renal transplant. In summary, we report a genotype\/phenotype correlation for Bartter syndrome type 3: complete loss-of-function mutations associated with younger age at diagnosis, and CKD was observed in all phenotypes.<\/jats:p>","DOI":"10.1681\/asn.2016101057","type":"journal-article","created":{"date-parts":[[2017,4,6]],"date-time":"2017-04-06T00:30:38Z","timestamp":1491438638000},"page":"2540-2552","source":"Crossref","is-referenced-by-count":99,"title":["Clinical and Genetic Spectrum of Bartter Syndrome Type 3"],"prefix":"10.1681","volume":"28","author":[{"given":"Elsa","family":"Seys","sequence":"first","affiliation":[{"name":"Pediatric Nephrology Unit, American Memorial Hospital, Reims University Hospital, Reims, France;"}]},{"given":"Olga","family":"Andrini","sequence":"additional","affiliation":[{"name":"Unit\u00e9 Mixte de Recherche en Sant\u00e9 1138, Team 3, Universit\u00e9 Pierre et Marie Curie, Paris, France;"},{"name":"Facult\u00e9 de M\u00e9decine, Universit\u00e9 Paris Descartes, Paris, France;"}]},{"given":"Mathilde","family":"Keck","sequence":"additional","affiliation":[{"name":"Unit\u00e9 Mixte de Recherche en Sant\u00e9 1138, Team 3, Universit\u00e9 Pierre et Marie Curie, Paris, France;"},{"name":"Institut National de la Sant\u00e9 et la Recherche M\u00e9dicale, Unit\u00e9 Mixte de Recherche en Sant\u00e9 872, Paris, France;"}]},{"given":"Lamisse","family":"Mansour-Hendili","sequence":"additional","affiliation":[{"name":"Facult\u00e9 de M\u00e9decine, Universit\u00e9 Paris Descartes, Paris, France;"},{"name":"Department of Genetics and"}]},{"given":"Pierre-Yves","family":"Courand","sequence":"additional","affiliation":[{"name":"Centre d\u2019Investigation Clinique, H\u00f4pital Europ\u00e9en Georges Pompidou, Assistance Publique-H\u00f4pitaux de Paris, Paris, France;"},{"name":"Cardiology Department, H\u00f4pital de la Croix-Rousse, Hospices Civils de Lyon, Lyon, France;"},{"name":"Centre de Recherche en Acquisition et Traitement de l'Image pour la Sant\u00e9; Centre National de la Recherche Scientifique Unit\u00e9 Mixte de Recherche 5220; Institut National de la Sant\u00e9 et la Recherche M\u00e9dicale, Unit\u00e9 1044; Institut National de Sciences Appliqu\u00e9es-Lyon; Universit\u00e9 Claude Bernard Lyon 1, France;"}]},{"given":"Christophe","family":"Simian","sequence":"additional","affiliation":[{"name":"Department of Genetics and"}]},{"given":"Georges","family":"Deschenes","sequence":"additional","affiliation":[{"name":"Pediatric Nephrology Unit, H\u00f4pital Robert Debr\u00e9, Assistance Publique-H\u00f4pitaux de Paris, Paris, France;"},{"name":"Centre de R\u00e9f\u00e9rence des Maladies R\u00e9nales H\u00e9r\u00e9ditaires de l\u2019Enfant et de l\u2019Adulte, Paris, France;"}]},{"given":"Theresa","family":"Kwon","sequence":"additional","affiliation":[{"name":"Pediatric Nephrology Unit, H\u00f4pital Robert Debr\u00e9, Assistance Publique-H\u00f4pitaux de Paris, Paris, France;"},{"name":"Centre de R\u00e9f\u00e9rence des 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France;"}]},{"given":"Laurence","family":"Dubourg","sequence":"additional","affiliation":[{"name":"Exploration Fonctionnelle R\u00e9nale et M\u00e9tabolique, Groupement Hospitalier est H\u00f4pital Edouard Herriot, Hospices Civils de Lyon, Lyon, France;"}]},{"given":"Dominique","family":"Chaveau","sequence":"additional","affiliation":[{"name":"Departement of Nephrology, Centre de R\u00e9f\u00e9rence des Maladies R\u00e9nales Rares du Sud-Ouest, H\u00f4pital de Toulouse, Universit\u00e9 Paul Sabatier, Toulouse, France;"}]},{"given":"Marc","family":"Fila","sequence":"additional","affiliation":[{"name":"Pediatric Nephrology Unit, Centre Hospitalier Universitaire de Montpellier, Montpellier, France;"}]},{"given":"No\u00e9mie","family":"Jourde-Chiche","sequence":"additional","affiliation":[{"name":"Facult\u00e9 de M\u00e9decine, Centre de R\u00e9f\u00e9rence des Maladies R\u00e9nales Rares du Sud-Ouest, Aix-MarseilleUniversit\u00e9\u2013Vascular Research Center of Marseille, Marseille, France;"},{"name":"Nephrology Unit, H\u00f4pital de la Conception, Assistance Publique des Hopitaux de Marseille, Marseille,France;"}]},{"given":"Bertrand","family":"Knebelmann","sequence":"additional","affiliation":[{"name":"Centre de R\u00e9f\u00e9rence des Maladies R\u00e9nales H\u00e9r\u00e9ditaires de l\u2019Enfant et de l\u2019Adulte, Paris, France;"},{"name":"Department of Nephrology, H\u00f4pital Necker-Enfants-malades, Assistance Publique des H\u00f4pitaux de Paris, Paris, France;"}]},{"given":"Marie-Pierre","family":"Lavocat","sequence":"additional","affiliation":[{"name":"Departement of Pediatrics, H\u00f4pital Nord, Centre Hospitalier Universitaire de Saint Etienne, Saint Etienne, France;"}]},{"given":"Sandrine","family":"Lemoine","sequence":"additional","affiliation":[{"name":"Exploration Fonctionnelle R\u00e9nale et M\u00e9tabolique, Groupement Hospitalier est H\u00f4pital Edouard Herriot, Hospices Civils de Lyon, Lyon, France;"}]},{"given":"Djamal","family":"Djeddi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Adolescent Medicine, Centre Hospitalier Universitaire d\u2019Amiens, Amiens, France;"}]},{"given":"Brigitte","family":"Llanas","sequence":"additional","affiliation":[{"name":"Service de N\u00e9phrologie P\u00e9diatrique, Groupement Hospitalier Pellegrin, Centre Hospitalier Universitaire de Bordeaux, Centre de R\u00e9f\u00e9rence des Maladies R\u00e9nales Rares du Sud-Ouest, Bordeaux, France;"}]},{"given":"Ferielle","family":"Louillet","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Centre Hospitalier Universitaire Charles Nicolle, Rouen, France;"}]},{"given":"Elodie","family":"Merieau","sequence":"additional","affiliation":[{"name":"Nephrology Unit,Centre Hospitalier Universitaire Tours, Tours, France;"}]},{"given":"Maria","family":"Mileva","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Centre Hospitalier Pierre Oudot de Bourgoin-Jallieu, Bourgoin-Jallieu, France;"}]},{"given":"Luisa","family":"Mota-Vieira","sequence":"additional","affiliation":[{"name":"Molecular Genetics Unit, Hospital do Divino Esp\u00edrito Santo de Ponta Delgada, Entidade P\u00fablica Empresarial Regional, A\u00e7ores, Portugal;"}]},{"given":"Christiane","family":"Mousson","sequence":"additional","affiliation":[{"name":"Nephrology Unit, Centre Hospitalier Universitaire de Dijon, Dijon, France;"}]},{"given":"Fran\u00e7ois","family":"Nobili","sequence":"additional","affiliation":[{"name":"Pediatric Nephrology Unit, Centre Hospitalier Universitaire de Besan\u00e7on, Besan\u00e7on, France;"}]},{"given":"Robert","family":"Novo","sequence":"additional","affiliation":[{"name":"Pediatric Nephrology Unit, H\u00f4pital Jeanne de Flandre, Centre Hospitalier Universitaire de Lille, Lille, France;"}]},{"given":"Gwena\u00eblle","family":"Roussey-Kesler","sequence":"additional","affiliation":[{"name":"Pediatric Nephrology Unit, 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