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Identification of five novel variants in the thiazide-sensitive NaCl co-transporter gene in Chinese patients with Gitelman syndrome.

Nephrology (Carlton, Vic.) - 1 Feb 2009

Qin Ling, Shao Leping, Ren Hong, Wang Weiming, Pan Xiaoxia, Zhang Wen, Wang Zhaohui, Shen Pingyan, Chen Nan

Abstract excerpt

AIM: Gitelman syndrome (GS) is an autosomal recessive renal tubulopathy characterized by hypokalaemic metabolic alkalosis, significant hypomagnesemia, low urinary calcium, secondary aldosteronism and normal blood pressure. GS is caused by inactivating variants in the SLC12A3 gene, which encodes the thiazide-sensitive NaCl co-transporter. So far, more than 100 variants have been described in the SLC12A3 gene in...

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PMID: 19207868
DOI: 10.1111/j.1440-1797.2008.01042.x

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CLCNKB

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