Prenatal diagnosis of genetically determined early manifestation of autosomal dominant polycystic kidney disease?

Hum Genet. 1985;71(4):368-9. doi: 10.1007/BF00388467.

Abstract

A case of an unusually early manifestation of autosomal dominant polycystic kidney disease (ADPKD) is reported that was prenatally diagnosed by ultrasound. The ultrasonographic picture showed greatly enlarged kidneys and increased echogenicity that was indistinguishable from cases of autosomal recessive polycystic kidney disease or Meckel syndrome without further information. Because of two further cases of early manifestation of ADPKD within the family reported (brother and cousin), as well as several other "familial" cases reported in the literature, we postulate that genetic factors are involved (modifying alleles). When reported observations of "familial" cases of early manifestations of ADPKD are made, genetic counseling should be considered.

Publication types

  • Case Reports

MeSH terms

  • Female
  • Genes, Dominant
  • Humans
  • Infant, Newborn
  • Male
  • Pedigree
  • Polycystic Kidney Diseases / diagnosis*
  • Polycystic Kidney Diseases / genetics
  • Pregnancy
  • Prenatal Diagnosis*
  • Time Factors
  • Ultrasonography