title: [Autosomal-recessive renal cystic disease and congenital hepatic fibrosis: clinico-anatomic case].
abstract: Clinico-anatomic observation of autosomal-recessive renal cystic disease and congenital hepatic fibrosis at two fetuses from the same family was done. Mutation of His3124Tyr in 58 exon of PKHD1 gene in heterozygous state was found out. The same pathomorphological changes in the epithelium of cystic renal tubules and bile ducts of the liver were noted. We suggest that the autopsy research of fetuses with congenital abnormalities, detected after prenatal ultrasonic screening, has high diagnostic importance.
authors.forename: K V
authors.initials: KV
authors.lastname: Rostol'tsev
authors.forename: R A
authors.initials: RA
authors.lastname: Burenkov
authors.forename: I A
authors.initials: IA
authors.lastname: Kuz'micheva
mesh_terms: D001344:Autopsy; D005091:Exons; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007668:Kidney / Q000473:pathology*; D008099:Liver / Q000473:pathology*; D008297:Male; D009154:Mutation; D017044:Polycystic Kidney, Autosomal Recessive / Q000235:genetics* / Q000401:mortality / Q000473:pathology*; D011247:Pregnancy; D011956:Receptors, Cell Surface / Q000097:blood / Q000235:genetics*
chemical_list: C451750:PKHD1 protein, human; D011956:Receptors, Cell Surface