Gitelman Syndrome: A Case Report.
| Autor: | Rocha J; Internal Medicine, Centro Hospitalar Universitário de São João, Porto, PRT., Pacheco M; Internal Medicine, Centro Hospitalar Universitário de São João, Porto, PRT., Matos M; Internal Medicine, Centro Hospitalar Universitário de São João, Porto, PRT., Ferreira S; Internal Medicine, Centro Hospitalar Universitário de São João, Porto, PRT., Almeida JS; Internal Medicine, Centro Hospitalar Universitário de São João, Porto, PRT. |
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| Jazyk: | angličtina |
| Zdroj: | Cureus [Cureus] 2023 May 02; Vol. 15 (5), pp. e38418. Date of Electronic Publication: 2023 May 02 (Print Publication: 2023). |
| DOI: | 10.7759/cureus.38418 |
| Abstrakt: | Gitelman syndrome is a rare hereditary tubulopathy characterized by hypokalemic metabolic alkalosis, hypomagnesemia, and hypocalciuria. In this case report, we describe a 21-year-old male who presented with myalgias, asthenia, general muscle weakness, and hypokalemia after receiving oral potassium supplementation for six months. Additional biochemical studies showed hypomagnesemia, metabolic alkalosis, and increased urinary potassium and magnesium excretion. Calcium urinary excretion was within the normal range, but 25-hydroxycholecalciferol levels were low. Systolic arterial hypertension was found, probably reflecting chronic hyperreninemic hyperaldosteronism. Genetic testing for SCL12A3 mutations identified a pathogenic variant in homozygosity, which confirmed the Gitelman syndrome diagnosis. Treatment with chronic potassium and magnesium oral supplementation was started, as well as eplerenone and amiloride, with sustained correction of hypokalemia and hypomagnesemia. Competing Interests: The authors have declared that no competing interests exist. (Copyright © 2023, Rocha et al.) |
| Databáze: | MEDLINE |
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