Vol. 25 - Num. 97
Clinical Reviews
Júlia Morata Albaa, Laia Morata Albab
aServicio de Pediatría. Hospital Lluís Alcanyís. Xátiva. Valencia. España.
bMédico de Familia. Departamento 14. Xàtiva-Ontinyent. Valencia. España
Correspondence: J Morata. E-mail: juliamorataalba@gmail.com
Reference of this article: Morata Alba J, Morata Alba L. Gitelman syndrome, when to suspect it . Rev Pediatr Aten Primaria. 2023;25:57-61.
Published in Internet: 30-01-2023 - Visits: 4659
Abstract
Tubulopathies are a heterogeneous group of entities defined by abnormalities of renal tubular function. Gitelman syndrome, the subject of our article, is caused by inactivating mutations of the SLC12A3 gene, which encodes the thiazide-sensitive Na-Cl cotransporter of the distal convoluted tubule, thus producing a urinary loss of Cl-Na.
Three clinical cases of Gitelman syndrome are presented, each with a clinical presentation. The purpose of this article is to familiarize the reader with this tubulopathy and to help in its early diagnosis.
Keywords
● Gitelman Syndrome ● Polyuria ● PotassiumComments
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