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Novel SLC12A3 mutation in Gitelman syndrome.

BMJ case reports - 18 Jan 2021

Veríssimo Rita, Leite de Sousa Luís, Carvalho Tiago J, Fidalgo Pedro

Abstract excerpt

Gitelman syndrome (GS) is an autosomal recessive disease characterised by the presence of hypokalaemic metabolic alkalosis with hypomagnesaemia and hypocalciuria. The prevalence of this disease is 1-10/40 000. GS is usually associated with mild and non-specific symptoms and many patients are only diagnosed in adulthood. The disease is caused by mutations in the SLC12A3 gene. We present the case of a 49-year-old...

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Genetic Testing
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PMID: 33462018
DOI: 10.1136/bcr-2020-238097
PMCID: PMC7813350

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