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.