title: Congenital nephropathy and ventriculomegaly: a report of four cases.
abstract: Congenital nephrotic syndrome with ventriculomegaly and a normal karyotype is a rare association. We report four cases, three of which were conceived consecutively by one couple. All the cases were associated with elevated maternal serum alpha-fetoprotein. Renal histology in one fetus demonstrated colloid filled cysts distributed in the corticomedullary area. Transmission electron microscopy of the glomeruli showed normally developed foot processes and confirmatory genetic studies excluded Finnish congenital nephrotic syndrome. It is probable that congenital nephropathy in conjunction with ventriculomegaly is the result of an autosomal recessive syndrome.
authors.affiliation: Centre for Fetal Care, Queen Charlotte's & Chelsea Hospital, Du Cane Rd, London W12 0HS, UK.
authors.forename: M
authors.initials: M
authors.lastname: Jolly
authors.forename: S
authors.initials: S
authors.lastname: Goodburn
authors.forename: P
authors.initials: P
authors.lastname: Cox
authors.forename: P
authors.initials: P
authors.lastname: Loughna
mesh_terms: D000328:Adult; D002552:Cerebral Ventricles / Q000002:abnormalities*; D003560:Cysts / Q000151:congenital / Q000473:pathology; D005260:Female; D005315:Fetal Diseases / Q000473:pathology*; D005808:Genes, Recessive; D005865:Gestational Age; D006801:Humans; D006849:Hydrocephalus / Q000150:complications / Q000000981:diagnostic imaging* / Q000196:embryology*; D007672:Kidney Cortex / Q000002:abnormalities; D007678:Kidney Glomerulus / Q000002:abnormalities / Q000648:ultrastructure; D009404:Nephrotic Syndrome / Q000150:complications / Q000151:congenital* / Q000473:pathology*; D011247:Pregnancy / Q000097:blood; D014463:Ultrasonography; D000509:alpha-Fetoproteins / Q000032:analysis
chemical_list: D000509:alpha-Fetoproteins