renal tubular dysgenesis

renal tubular dysgenesis

An autosomal recessive disorder of renal tubular development (OMIM:267430), characterised by persistent foetal anuria and perinatal death, probably due to pulmonary hypoplasia from early-onset oligohydramnios (Potter phenotype).

Molecular pathology
Caused by a mutation of ACE, which encodes angiotensin-converting enzyme.