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

European Journal of Case Reports in Internal Medicine

Maria Ferreira¹  Maria Teresa Branco¹  Maria Clara Novais de Matos¹  Maria Inês Silva¹  FábioCorreia¹  Sofia Carola¹  Ana Órfão¹ 

[1] Department of Internal Medicine, Hospital Professor Doutor Fernando Fonseca, Amadora, Portugal;

关键词: gitelman syndrome;    hypokalaemia;    hereditary renal tubulopathy;    slc12a3 mutations;   

DOI  :  10.12890/2021_002182

来源: DOAJ

【 摘 要 】

Gitelman syndrome (GS) is a hereditary renal tubulopathy caused by mutations in the SLC12A3 gene which encodes the thiazide-sensitive apical sodium-chloride cotransporter. GS is characterized by hypokalaemia, hypomagnesaemia and metabolic alkalosis. Treatment is based on potassium and magnesium replacement ad eternum. We present the case of a young man with palpitations and persistent hypokalaemia, who was diagnosed with GS. Genetic testing revealed 2 mutations in the gene SLC12A3 of combined heterozygosity, both considered pathological. Interestingly, 1 of these mutations was not yet described in the literature or in the reviewed databases. We also discuss the clinical approach and the specificities of managing this rare hereditary renal tubulopathy.

【 授权许可】

Unknown