CONGENITAL RENAL TUBULAR DYSPLASIA AND SKULL OSSIFICATION DEFECTS SIMILAR TO TERATOGENIC EFFECTS OF ANGIOTENSIN-CONVERTING ENZYME (ACE) INHIBITORS

An apparently autosomal recessive syndrome of congenital renal tubular dysplasia and skull ossification defects is described in five infants from two separate, consanguineous, Pakistani Muslim kindreds. The cli nical, pathological, and radiological features are similar to the phen otype associated with fetal exposure to angiotensin converting enzyme (ACE) inhibitors: intrauterine growth retardation, skull ossification defects, and fetal/neonatal anuric renal failure associated with renal tubular dysplasia. There was no fetal exposure to ACE inhibitors in t he affected infants. Phenotypic similarities between these familial ca ses and those associated with ACE inhibition suggest an abnormality of the ''renin-angiotensin-aldosterone'' system (RAS). It is postulated that the molecular pathology in this uncommon autosomal recessive prox imal renal tubular dysgenesis could be related to mutations of the gen e systems governing the RAS.