Approach to a Patient with Suspected Genetic Disorder: Case Report

Abstract

A middle aged male known to have polycystic kidneys on ultrasound presented with features suggestive of end stage renal disease. Family history revealed presence of similar phenotype in multiple family members suggesting a genetic cause. The pedigree also determined the mode of inheritance and phenotypic expression of the disorder. Genetic testing is warranted in this family in order to anticipate and mitigate complications of the disorder. Genetic testing, though costly and not readily available locally, is an increasingly necessary armamentarium for the management and control of disorders with a genetic cause.