Expanding the clinical spectrum of autosomal-recessive renal tubular dysgenesis: Two siblings with neonatal survival and review of the literature.

ABSTRACT:

Background

Autosomal-recessive renal tubular dysgenesis (AR-RTD) is a rare genetic disorder caused by defects in the renin-angiotensin system that manifests as fetal anuria leading to oligohydramnios and Potter sequence. Although the most common outcome is neonatal death from renal failure, pulmonary hypoplasia, and/or refractory arterial hypotension; several cases have been reported that describe survival past the neonatal period.

Methods

Herein, we report the first family with biallelic ACE variants and more than one affected child surviving past the neonatal period, as well as provide a review of the previously reported 18 cases with better outcomes.

Results

While both siblings with identical compound heterozygous ACE variants have received different treatments, ne

SUBMITTER: Vincent KM 

PROVIDER: S-EPMC9034669 | biostudies-literature | 2022 May

REPOSITORIES: biostudies-literature