[Unexpected diagnosis of nephronopthisis in the genetic study of hypertension due to histological diagnosis of benign nephroangioesclerosis evolved in a young caucasian patient]

Abstract

We present the case of a young Caucasian patient with renal disease of unclear cause, with a final diagnosis of advanced benign nephroangiosclerosis established by renal biopsy. Due to the possibility of having hypertension in pediatric age (without study or treatment), with the renal biopsy findings, the genetic study showed polymorphisms risk in the APOL1 and MYH9, and also an unexpected diagnosis of a complete deletion of the NPHP1 gene in homozygosis, associated with the development of nephronophthisis. In conclusion, this case illustrates the importance of carrying out a genetic study in youngs patients with renal disease unclear cause, even having a histological diagnosis of nephroangiosclerosis.

Keywords: Enfermedad renal de causa no clara; Estudio genético; Genetic study; Kidney disease of unknown cause; Nefroangioesclerosis; Nefronoptisis; Nephroangiosclerosis; Nephronophthisis.