Severe prenatal renal anomalies associated with mutations in HNF1B or PAX2 genes.

ABSTRACT:

Background and objectives

Congenital anomalies of the kidney and urinary tract (CAKUT) are a frequent cause of renal failure in children, and their detection in utero is now common with fetal screening ultrasonography. The clinical course of CAKUT detected before birth is very heterogeneous and depends on the level of nephron reduction. The most severe forms cause life-threatening renal failure, leading to perinatal death or the need for very early renal replacement therapy.

Design, setting, participants, & measurements

This study reports the screening of two genes (HNF1B and PAX2) involved in monogenic syndromic CAKUT in a cohort of 103 fetuses from 91 families with very severe CAKUT that appeared isolated by fetal ultrasound examination and led to termination of pregnancy.

SUBMITTER: Madariaga L 

PROVIDER: S-EPMC3700697 | biostudies-literature | 2013 Jul

REPOSITORIES: biostudies-literature