Abstract:Background
Gitelman syndrome (GS) is an autosomal recessive disease primarily caused by mutations in the SLC12A3 gene, characterized by the hypokalaemic metabolic alkalosis with hypomagnesemia. Here, we investigated the mutation of SLC12A3 gene in a Chinese pedigree with GS and analyzed the clinical manifestations.
Case presentation
We present the case of a 17-year-old boy diagnosed of GS due to persistent hypokalaemia. To co… Show more
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