Hypokalemia, hypomagnesemia, hypocalciuria, and recurrent tetany: Gitelman syndrome in a Chinese pedigree and literature review. Issue 5 (17th March 2017)

• Record Type: Journal Article
• Authors: Xia, Ming‐Feng; Bian, Hua; Liu, Hong; Wu, Hui‐Juan; Zhang, Zhi‐Gang; Lu, Zhi‐Qiang; Gao, Xin
• Is Part Of: Clinical case reports. Volume 5:Issue 5(2017)
• Page Start: 578
• Page End: 586
• Publication Date: 2017-03-17
• Subjects: Gitelman syndrome -- phenotype–genotype relation -- review -- SLC12A3; Medicine -- Periodicals; 616.09
• DOI: 10.1002/ccr3.874
• Languages: English
• ISSNs: 2050-0904

Abstract

Key Clinical Message: 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. Abstract : 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.