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Hypokalemia, despite its potential seriousness, is frequently encountered in clinical practice; with the majority of cases occurring in adulthood being 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 the analysis of the barttin’s gene, revealing a G47R mutation in heterozygosity as well as a second mutation within an usually unaltered area. G47R mutation 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. more...

La diarrea crónica es una entidad frecuente. Las causas son múltiples, por lo que llegar al diagnóstico definitivo puede resultar complejo acarreando con ello una demora diagnóstica que puede llegar a ser mortal. Se expone el caso de una mujer joven que desarrolla hipopotasemia severa secundaria a un VIPoma, tumor neuroendocrino secretor de péptido intestinal vasoactivo, hormona responsable del cuadro clínico: diarrea acuosa, hipopotasemia y aclorhidria. Chronic diarrhea is frequent. The causes are multiple, so reaching the definitive diagnosis can be complex. The diagnostic delay can be deadly. We describe the case of a young woman who developed severe hypokalemia secondary to VIPoma, neuroendocrine tumor secreting vasoactive intestinal peptide, a hormone responsible for the clinical: watery diarrhea, hypokalemia and achlorhydria more...