Genotype, Phenotype, and Follow-Up in Taiwanese Patients with Salt-Losing Tubulopathy Associated with<i>SLC12A3</i>Mutation

Abstract

Screening of recurrent hot spot SLC12A3 mutations may provide an early diagnosis of GS. Besides gender effect, the nature of homozygous and deep intronic mutations may influence the phenotype. Patients with GS may be at increased risk for the development of chronic kidney disease and type 2 diabetes.