title: Congenital renal tubular dysplasia and skull ossification defects similar to teratogenic effects of angiotensin converting enzyme (ACE) inhibitors.
abstract: 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 clinical, pathological, and radiological features are similar to the phenotype 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 the affected infants. Phenotypic similarities between these familial cases 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 proximal renal tubular dysgenesis could be related to mutations of the gene systems governing the RAS.
authors.affiliation: Centre for Human Genetics, Sheffield, UK.
authors.forename: D
authors.initials: D
authors.lastname: Kumar
authors.forename: G
authors.initials: G
authors.lastname: Moss
authors.forename: R
authors.initials: R
authors.lastname: Primhak
authors.forename: R
authors.initials: R
authors.lastname: Coombs
mesh_terms: D000014:Abnormalities, Drug-Induced / Q000473:pathology*; D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D000328:Adult; D000806:Angiotensin-Converting Enzyme Inhibitors / Q000009:adverse effects*; D003241:Consanguinity; D005260:Female; D006801:Humans; D007684:Kidney Tubules / Q000002:abnormalities*; D008297:Male; D010375:Pedigree; D010641:Phenotype; D012886:Skull / Q000002:abnormalities*; D013723:Teratogens / Q000633:toxicity
chemical_list: D000806:Angiotensin-Converting Enzyme Inhibitors; D013723:Teratogens