Autosomal recessive polycystic kidney disease

J Mol Med (Berl). 1998 Apr;76(5):303-9. doi: 10.1007/s001090050221.


Autosomal recessive polycystic kidney disease (ARPKD) is a rare inherited disorder which usually becomes clinically manifest in early childhood, although the spectrum of ARPKD is much more variable than generally known. Presentation of ARPKD at later ages and survival into adulthood have been observed in many cases. The responsible gene has been mapped to chromosome 6p. Thus there is no evidence of genetic heterogeneity. The most important indication for DNA diagnosis is the prenatal diagnosis in families with at least one affected child. The critical region has been narrowed with the use of recombinant families of about 4 cM. Several possible candidate genes have been excluded.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Chromosome Mapping
  • Chromosomes, Human, Pair 6
  • Genetic Heterogeneity
  • Humans
  • Linkage Disequilibrium
  • Pedigree
  • Polycystic Kidney, Autosomal Recessive* / diagnosis
  • Polycystic Kidney, Autosomal Recessive* / epidemiology
  • Polycystic Kidney, Autosomal Recessive* / genetics
  • Prenatal Diagnosis