Vol. 27 - Num. 107
Clinical Reviews
Gitelman Syndrome: Diagnosis from an incidental finding of hypokalemia
M.ª Tatiana Fernández Garridoa, Anny Vanessa Martínez Báezb, Jesús M.ª Pascual Pérezc, Jorge Lévano Vásquezc, M.ª Mercedes Santos Herreroa
aMédico de Familia y Médico Puericultor. CS Los Pintores. Parla. Madrid. España
bMédico de Familia. CS Los Pintores. Parla. Madrid. España
cPediatra. CS Los Pintores. Parla. Madrid. España.
Correspondence: MT Fernández. E-mail: tatiana.fernandez@salud.madrid.org
Reference of this article: Fernández Garrido MT, Martínez Báez AV, Pascual Pérez JM, Lévano Vásquez J, Santos Herrero MM. Gitelman Syndrome: Diagnosis from an incidental finding of hypokalemia . Rev Pediatr Aten Primaria. 2025;27:263-7. https://doi.org/10.60147/907ee68e
Published in Internet: 15-07-2025 - Visits: 3129
Abstract
Gitelman syndrome (GS) is an autosomal recessive tubulopathy caused by mutations in the SLC12A3 gene, which encodes sodium chloride (NaCl) and magnesium (Mg) transporters in the apical membrane of distal convoluted tubule cells.
It is characterized by hypokalemia, metabolic alkalosis, hypocalciuria, hypomagnesemia, and hyperreninemic hyperaldosteronism.
The diagnosis is based on the clinical presentation and the previously described biochemical abnormalities. Symptoms can vary from mild (cramps, weakness), or even asymptomatic cases, to severe (tetany, seizures). The definitive diagnosis is confirmed by genetic testing.
The differential diagnosis includes Bartter syndrome type III and renal hypomagnesemia with hypocalciuria.
Treatment is symptomatic and involves supplementation with potassium and magnesium.
Keywords
● Bartter Syndrome ● Gitelman Syndrome ● Hypokalemia