Two novel mutations in the CLCNKB gene leading to classic Bartter syndrome presenting as syncope and hypertension in a 13-year-old boy

Classic Bartter syndrome is a rare condition caused by mutations in the CLCNKB gene and characterised by metabolic alkalosis, hypokalaemia, hyper-reninaemia and hyperaldosteronism. Early signs and symptoms usually occur before a child’s sixth birthday and include polyuria and developmental delay. We...

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Vydáno v:BMJ Case Rep
Hlavní autoři: Le, Binh T, Duong, Cuong M, Nguyen, Tien Q, Bui, Chi-Bao
Médium: Artigo
Jazyk:Inglês
Vydáno: BMJ Publishing Group 2020
Témata:
Rare Disease
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7341725/
https://ncbi.nlm.nih.gov/pubmed/32624484
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2019-233872
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