A novel mutation of CLCNKB in a Korean patient of mixed phenotype of Bartter-Gitelman syndrome

Bartter syndrome (BS) is an inherited renal tubular disorder characterized by low or normal blood pressure, hypokalemic metabolic alkalosis, and hyperreninemic hyperaldosteronism. Type III BS is caused by loss-of-function mutations in CLCNKB encoding basolateral ClC-Kb. The clinical phenotype of pat...

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Bibliographic Details
Published in:Korean J Pediatr
Main Authors: Cho, Hee-Won, Lee, Sang Taek, Cho, Heeyeon, Cheong, Hae Il
Format: Artigo
Language:Inglês
Published: The Korean Pediatric Society 2016
Subjects:
Case Report
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC5177689/
https://ncbi.nlm.nih.gov/pubmed/28018459
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3345/kjp.2016.59.11.S103
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