Two Brothers from Macedonia with Gitelman Syndrome

Abstract

Gitelman syndrome (GS) is a rare renal tubulopathy with an autosomal recessive mode of inheritance, caused by biallelic pathogenic variants in the SLC12A3 gene. The clinical features may overlap with other disorders, such as Bartter syndrome type 3, HNF1B nephropathy or even mitochondrial disease, but can be distinguished by molecular genetic analysis.

Keywords

• gitelman syndrome
• hypokalemia
• hypomagnesemia
• hypocalciuria
• slc12a3