Early-Onset Gitelman Syndrome Presenting with Recurrent Hypokalaemia and Tetany in an Eight-Year-Old Girl: A Case Report
Abstract
Gitelman syndrome (GS) is a rare autosomal recessive renal tubular disorder characterised by hypokalaemia, hypomagnesaemia, metabolic alkalosis, and hypocalciuria. It typically manifests during adolescence or adulthood, while paediatric presentations are uncommon and often misdiagnosed. We report the case of an eight-year-old girl presenting with recurrent episodes of severe hypokalaemia and muscle cramps triggered by acute gastroenteritis. Genetic testing identified two heterozygous pathogenic variants in the solute carrier family 12 member 3 SLC12A3) gene, confirming GS.
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Evidence Hub reads this as a case report, done in people. Its evidence level is 5 of 5 (Very low · case / narrative / animal / in vitro / in silico). Case reports, narrative reviews, and animal, cell or computer-model studies give the weakest evidence for human health.
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