Refractory genetic hypokalemia in adulthood / Hipopotasemia genética refractaria en la edad adulta

ABSTRACT

Hypokalemia, despite its potential seriousness, is frequently encountered in clinical practice; with the majority of cases occurring in adulthoodbeing rationalized by examining the triad losses diuretics, vomiting and diarrhea, as inherited causes of hypokalemia with later onset are uncommon.Below we report a case of chronic and recurrent mild hypokalemia, in an adult patient with idiopathic congenital deafness. Early clinical and analytical findings pointed to a hereditary syndrome with augmented potassium renal excretion. Suspicion of a likely molecular basis motivated theanalysis of the barttin’s gene, revealing a G47R mutation in heterozygosity as well as a second mutation within an usually unaltered area. G47Rmutation when in homozygosity is associated with an attenuated BSND (Bartter syndrome accompanied by sensorineural deafness) phenotype,questioning the clinical significance of the second mutation discovered. (AU)