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

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 finding...

Full description

Saved in:
Bibliographic Details
Published inHipertension y riesgo vascular
Main Authors Heras Benito, M, Pérez García, M L, Antúnez Plaza, P, Montero Mateos, E
Format Journal Article
LanguageSpanish
Published Spain 01.07.2023
Subjects
Enfermedad renal de causa no clara
Nephroangiosclerosis
Kidney disease of unknown cause
Nephronophthisis
Estudio genético
Genetic study
Nefroangioesclerosis
Nefronoptisis
Online AccessGet more information

Cover

More Information
Summary: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.
ISSN:1989-4805
DOI:10.1016/j.hipert.2023.02.001