A patient with Dent disease and features of Bartter syndrome caused by a novel mutation of CLCN5
Author:
Publisher
Springer Science and Business Media LLC
Subject
Pediatrics, Perinatology and Child Health
Link
http://link.springer.com/content/pdf/10.1007/s00431-011-1578-3.pdf
Reference13 articles.
1. Akil I, Ozen S, Kandiloglu AR, Ersoy B (2010) A patient with Bartter syndrome accompanying severe growth hormone deficiency and focal segmental glomerulosclerosis. Clin Exp Nephrol 14:278–282
2. Besbas N, Ozaltin F, Jeck N, Seyberth H, Ludwig M (2005) CLCN5 mutation (R347X) associated with hypokalemic metabolic alkalosis in a Turkish child: an unusual presentation of Dent’s disease. Nephrol Dial Transplant 20:1476–1479
3. Bogdanovic R, Draaken M, Toromanovic A, Dordevic M, Stajic N, Ludwig M (2010) A novel CLCN5 mutation in a boy with Bartter-like syndrome and partial growth hormone deficiency. Pediatr Nephrol 25:2363–2368
4. Christensen EI, Devuyst O, Dom G, Nielsen R, Van der Smissen P, Verroust P, Leruth M, Guggino WB, Courtoy PJ (2003) Loss of chloride channel CLC-5 impairs endocytosis by defective trafficking of megalin and cubilin in kidney proximal tubules. Proc Natl Acad Sci USA 100:8472–8477
5. Claverie-Martin F, Ramos-Trujillo E, Garcia-Nieto V (2011) Dent’s disease: clinical features and molecular basis. Pediatr Nephrol 26:693–704
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3. Advances in the Study of Dent Disease;Advances in Clinical Medicine;2023
4. Dent-2 disease with a Bartter-like phenotype caused by the Asp631Glu mutation in the OCRL gene;BMC Nephrology;2022-05-12
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