Natural history of autosomal dominant polycystic kidney disease

Annu Rev Med. 1994:45:23-9. doi: 10.1146/annurev.med.45.1.23.

Abstract

At least two different genes, which have been mapped to chromosomes 4 and 16, cause autosomal dominant polycystic kidney disease, a disorder with renal and extrarenal manifestations. Although gene-linkage testing is possible, the disease is diagnosed mainly through ultrasonography. Renal disease is characterized clinically by hypertension, acute and chronic pain, and variable progression to end-stage renal disease. Extrarenal manifestations include liver cysts, which may lead to complications; ruptured intracranial aneurysms; cardiac valvular disease; colonic diverticula; and inguinal hernias. Disease management is directed at minimizing and treating the complications of this illness.

Publication types

  • Review

MeSH terms

  • Cysts / physiopathology
  • Genetic Linkage
  • Humans
  • Hypertension / physiopathology
  • Kidney Failure, Chronic / physiopathology
  • Liver Diseases / physiopathology
  • Polycystic Kidney, Autosomal Dominant / diagnostic imaging
  • Polycystic Kidney, Autosomal Dominant / genetics
  • Polycystic Kidney, Autosomal Dominant / pathology
  • Polycystic Kidney, Autosomal Dominant / physiopathology*
  • Ultrasonography