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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Detalles Bibliográficos
Autores principales: Xia, Ming‐Feng, Bian, Hua, Liu, Hong, Wu, Hui‐Juan, Zhang, Zhi‐Gang, Lu, Zhi‐Qiang, Gao, Xin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5412754/
https://www.ncbi.nlm.nih.gov/pubmed/28469853
http://dx.doi.org/10.1002/ccr3.874

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5412754/
https://www.ncbi.nlm.nih.gov/pubmed/28469853
http://dx.doi.org/10.1002/ccr3.874

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