Autosomal dominant polycystic kidney disease in the fetus

Am J Med Genet. 1994 Jul 1;51(3):240-6. doi: 10.1002/ajmg.1320510314.


We report on 3 cases with a fetal presentation of autosomal dominant polycystic kidney disease (ADPKD), which illustrate the variable expression of ADPKD during fetal life. Fetus 1 was diagnosed at 20 weeks of gestation by ultrasonography; a molecular prenatal diagnosis was performed at 10 weeks on fetus 2, a sib of fetus 1; and ADPKD was an incidental finding in fetus 3 who was aborted at 16 weeks for anencephaly. All pregnancies were terminated and pathologic studies of the fetal kidneys were performed. From these cases and a review of the literature, we draw the following conclusions: (1) so far, all fetal ADPKD kidneys that have been histologically studied have shown cystic dilatations; 28/32 of these fetuses had ultrasonographic manifestations of the disease and/or had sibs with an early-onset form of it; (2) these cysts can be found in newly formed nephrons (fetus 2), predominantly in the more mature nephrons of the deep cortex (fetus 1) or more sparsely distributed in the cortex (fetus 3); these different patterns may reflect different rates of progression of the disease; (3) in contrast to the histologic findings in adult kidneys, glomeruli seem to be predominantly affected in fetal ADPKD; (4) severe fetal expression of ADPKD seems to cluster in some families; and (5) so far, all DNA analyses performed in families with subjects presenting during the fetal or neonatal period have been consistent with linkage to the PKD1 locus.

MeSH terms

  • Adult
  • Female
  • Fetal Diseases / diagnostic imaging
  • Fetal Diseases / genetics*
  • Genetic Linkage
  • Humans
  • Kidney Glomerulus / embryology
  • Kidney Glomerulus / pathology
  • Kidney Glomerulus / ultrastructure
  • Kidney Tubules / embryology
  • Kidney Tubules / ultrastructure
  • Male
  • Middle Aged
  • Pedigree
  • Polycystic Kidney, Autosomal Dominant / diagnostic imaging
  • Polycystic Kidney, Autosomal Dominant / embryology*
  • Polycystic Kidney, Autosomal Dominant / genetics
  • Pregnancy
  • Ultrasonography, Prenatal