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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Detalles Bibliográficos
Autores principales: Cho, Hee-Won, Lee, Sang Taek, Cho, Heeyeon, Cheong, Hae Il
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Pediatric Society 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5177689/
https://www.ncbi.nlm.nih.gov/pubmed/28018459
http://dx.doi.org/10.3345/kjp.2016.59.11.S103

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5177689/
https://www.ncbi.nlm.nih.gov/pubmed/28018459
http://dx.doi.org/10.3345/kjp.2016.59.11.S103

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