Matos, Clara and Correia, Fábio and Nunes da Silva, Inês and Carola, Sofia and Órfão, Ana and Ferreira, Maria and Branco, Teresa (2021) Gitelman Syndrome: A Rare Case of Hypokalaemia and a Novel Mutation. European Journal of Case Reports in Internal Medicine, 8 (1). pp. 1-2. ISSN ISSN: 2284-2594
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Abstract
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..
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | Gitelman syndrome, hypokalaemia, hereditary renal tubulopathy, SLC12A3 mutations |
| Subjects: | 600 Tecnologia - Scienze applicate 600 Tecnologia - Scienze applicate > 610 Medicina e salute (Classificare qui la tecnologia dei servizi medici) 600 Tecnologia - Scienze applicate > 610 Medicina e salute (Classificare qui la tecnologia dei servizi medici) > 616 Malattie (classificare qui la Clinica medica, la medicina basata sull'evidenza, la Medicina interna, la Medicina sperimentale) |
| Depositing User: | Marina Spanti |
| Date Deposited: | 20 Dec 2021 15:07 |
| Last Modified: | 20 Dec 2021 15:07 |
| URI: | http://eprints.bice.rm.cnr.it/id/eprint/21169 |
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