A case of Gitelman syndrome: our experience with a patient treated in clinical practice on a local island

Background: Gitelman syndrome (GS) is an autosomal recessive salt-losing renal tubulopathy resulting from mutations in the thiazide-sensitive Na-Cl cotransporter (NCC) gene. Notably, lack of awareness regarding GS and difficulty with prompt diagnosis are observed in clinical practice, particularly i...

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Vydáno v:J Rural Med
Hlavní autoři: Chinen, Takashi, Saeki, Eiji, Mori, Takayasu, Sohara, Eisei, Uchida, Shinichi, Akimoto, Tetsu
Médium: Artigo
Jazyk:Inglês
Vydáno: The Japanese Association of Rural Medicine 2019
Témata:
Case Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6877917/
https://ncbi.nlm.nih.gov/pubmed/31788154
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2185/jrm.3014
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