Gitelman-Like Syndrome Caused by Pathogenic Variants in mtDNA.

ABSTRACT:

Background

Gitelman syndrome is the most frequent hereditary salt-losing tubulopathy characterized by hypokalemic alkalosis and hypomagnesemia. Gitelman syndrome is caused by biallelic pathogenic variants in SLC12A3, encoding the Na⁺-Cl^- cotransporter (NCC) expressed in the distal convoluted tubule. Pathogenic variants of CLCNKB, HNF1B, FXYD2, or KCNJ10 may result in the same renal phenotype of Gitelman syndrome, as they can lead to reduced NCC activity. For approximately 10 percent of patients with a Gitelman syndrome phenotype, the genotype is unknown.

Methods

We identified mitochondrial DNA (mtDNA) variants in three families with Gitelman-like electrolyte abnormalities, then investigated 156 families for variants in

SUBMITTER: Viering D 

PROVIDER: S-EPMC8819995 | biostudies-literature | 2022 Feb

REPOSITORIES: biostudies-literature