Article

The genetic spectrum of Gitelman(-like) syndromes

2022-07-11

Abstract excerpt

Purpose of review Gitelman syndrome is a recessive salt-wasting disorder characterized by hypomagnesemia, hypokalemia, metabolic alkalosis and hypocalciuria. The majority of patients are explained by mutations and deletions in the SLC12A3 gene, encoding the Na+-Cl−-co-transporter (NCC). Recently, additional genetic causes of Gitelman-like syndromes have been identified that should be considered in genetic screenin...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: af747dbb-b009-52d2-977b-6f45de51c298
DOI: 10.1097/mnh.0000000000000818

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

The genetic spectrum of Gitelman(-like) syndromesDOI 10.1097/mnh.0000000000000818Read

Gitelman-Like Syndrome Caused by Pathogenic Variants in mtDNA.Semantic proximity Read

Identification of fifteen novel mutations in the SLC12A3 gene encoding the Na-Cl Co-transporter in Italian patients with Gitelman syndrome.Semantic proximity Read

Gitelman syndrome.Semantic proximity Read

Identification of compound mutations of SLC12A3 gene in a Chinese pedigree with Gitelman syndrome exhibiting Bartter syndrome-liked phenotypes.Semantic proximity Read

Clinical phenotypic and genotypic analysis of Gitelman syndrome in childrenSemantic proximity Read

Gitelman syndrome: consensus and guidance from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference.Semantic proximity Read

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

Identification of novel compound mutations of SLC12A3 gene in a Chinese pedigree with Gitelman's syndrome exhibiting Bartter's syndrome-liked phenotypesSemantic proximity Read

Novel mutations in the SLC12A3 gene causing Gitelman's syndrome in Swedes.Semantic proximity Read

Gitelman's syndrome: a pathophysiological and clinical update.Semantic proximity Read

Genetic causes of hypomagnesemia, a clinical overview.Semantic proximity Read

Mutations in SLC12A3 and CLCNKB and Their Correlation with Clinical Phenotype in Patients with Gitelman and Gitelman-like Syndrome.Semantic proximity Read