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Genetic analysis of SLC12A3 gene and diagnostic process in patients with Gitelman syndrome.

Clinical nephrology - 1 Sept 2021

Zheng Xinyi, Shang Shunlai, Cai Guangyan, Chen Xiangmei, Li Qinggang

Abstract excerpt

As the most frequent inherited tubulopathy, Gitelman syndrome (GS), has an incidence that has increased worldwide. The distribution of SLC12A3 gene mutation hotspots deserves exploration. In addition, GS is not a benign syndrome; however, the diagnostic process of GS has not yet been completely detailed. MATERIALS AND METHODS: We report two cases of GS pedigrees involving two previously unreported mutations, c....

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PMID: 33993910
DOI: 10.5414/CN110425

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