Title : Gitelman Syndrome: A Rare Case of Hypokalaemia and a Novel Mutation.

Pub. Date : 2021

PMID : 33585337






1 Functional Relationships(s)
Download
Sentence
Compound Name
Protein Name
Organism
1 We also discuss the clinical approach and the specificities of managing this rare hereditary renal tubulopathy.. LEARNING POINTS: Gitelman syndrome is a rare cause of persistent hypokalaemia.A definitive diagnosis is determined by the identification of mutations in the SLC12A3 gene.Management consists of chronic potassium and magnesium supplementation aimed at symptom control. Magnesium solute carrier family 12 member 3 Homo sapiens