Gitelman syndrome in a South African family presenting with hypokalaemia and unusual food cravings.
Pieter Du Toit van der MerweMegan A RensburgWilliam L HaylettSoraya BardienMogamat Razeen DavidsPublished in: BMC nephrology (2017)
The diagnosis of GS was established in five members of a South African family through clinical assessment, biochemical analysis and mutation screening of the SLC12A3 gene, which identified two novel putative pathogenic mutations.