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[Expert consensus for the diagnosis and treatment of patients with Gitelman syndrome].

Zhonghua nei ke za zhi - 1 Sept 2017

Abstract excerpt

Gitelman syndrome (GS) is an autosomal recessive, salt-losing tubulopathy caused by inactivating mutations in the SLC12A3 gene that encodes the thiazide-sensitive sodium-chloride cotransporter (NCC). GS is characterized by hypokalemic metabolic alkalosis, hypomagnesemia and hypocalciuria. GS is one of the most common inherited renal tubulopathy with a prevalence estimated at about one to ten per 40 000 people....

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Identifiers

PMID: 28870047
DOI: 10.3760/cma.j.issn.0578-1426.2017.09.021

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