First case of Gitelman syndrome in a child in Macau

Abstract

The first case of a child with Gitelman syndrome (GS) in Macau was analyzed. The normotensive child presented with hypokalemia, hypomagnesemia, metabolic alkalosis, hyperreninemia and hypocalciuria. SLC12A3 gene mutation was detected. In any children with persistent hypokalemia, it is crucial to establish the cause. In any children with presumed clinical diagnosis of GS, genetic testing is cardinal.

Keywords

• Gitelman syndrome
• SLC12A3 gene