Hypokalemia, hypomagnesemia, hypocalciuria, and recurrent tetany: Gitelman syndrome in a Chinese pedigree and literature review

Gitelman syndrome is an autosomal recessive disease mostly associated with loss‐of‐function mutations of the SLC12A3 gene and featured by clinical hypokalemia, hypomagnesemia, hypocalciuria, and histologically hypertrophy of the juxtaglomerular apparatus. A novel homozygous mutation (p.Arg399Pro) at...

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Dades bibliogràfiques
Publicat a:Clin Case Rep
Autors principals: Xia, Ming‐Feng, Bian, Hua, Liu, Hong, Wu, Hui‐Juan, Zhang, Zhi‐Gang, Lu, Zhi‐Qiang, Gao, Xin
Format: Artigo
Idioma:Inglês
Publicat: John Wiley and Sons Inc. 2017
Matèries:
Case Reports
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5412754/
https://ncbi.nlm.nih.gov/pubmed/28469853
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.874
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