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Article

Resistance to Insulin in Patients with Gitelman Syndrome and a Subtle Intermediate Phenotype in Heterozygous Carriers: A Cross-Sectional Study

8 Jul 2019

Abstract excerpt

Significance Statement About 1% of the population is heterozygous for loss-of-function variants in SLC12A3 , which encodes the thiazide-sensitive sodium-chloride cotransporter. Biallelic SLC12A3 mutations are responsible for Gitelman syndrome, a salt-losing tubulopathy. In a cross-sectional study of 81 heterozygous carriers, 82 healthy noncarriers, and 79 patients with Gitelman syndrome of similar age, body mass...

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Identifiers

PMID: 31285285
DOI: 10.1681/asn.2019010031

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Resistance to Insulin in Patients with Gitelman Syndrome and a Subtle Intermediate Phenotype in Heterozygous Carriers: A Cross-Sectional StudyPMID 31285285Read ↗

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