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 the extracellular domain of SLC12A3 was found and correlated with the severe clinical manifestations.

Citation

Ming-Feng Xia, Hua Bian, Hong Liu, Hui-Juan Wu, Zhi-Gang Zhang, Zhi-Qiang Lu, Xin Gao. Hypokalemia, hypomagnesemia, hypocalciuria, and recurrent tetany: Gitelman syndrome in a Chinese pedigree and literature review. Clinical case reports. 2017 May;5(5):578-586

PMID: 28469853

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