Polycystic kidney disease: <<30 ans après>>

J Nephrol. 1999 Jul-Aug:12 Suppl 2:S42-6.

Abstract

Major progress has been achieved in autosomal dominant polycystic kidney disease in the last 30 years; Progress in imaging procedures has been decisive for diagnosis (by ultasonography), management of kidney and liver complications (by CT scan), and investigation and sometimes management of intracranial aneurysms (by MRI-angiography and endovascular treatment procedures). On the other hand, progress in molecular genetics has led to the identification of PKD1 and PDK2 genes, and their respective gene products, polycystin 1 and 2. A two-hit model for cyst formation has recently been put forward. The link between the gene defects and cyst fluid formation and progression is still unknown. In addition, cystic and non-cystic lesions coexist in the disease, underlining that the primary molecular defect is located upstream of the mechanism of cyst formation.

Publication types

  • Review

MeSH terms

  • Animals
  • Disease Progression
  • Humans
  • Polycystic Kidney Diseases* / complications
  • Polycystic Kidney Diseases* / diagnosis
  • Polycystic Kidney Diseases* / genetics
  • Polycystic Kidney Diseases* / therapy
  • Polycystic Kidney, Autosomal Dominant / complications
  • Polycystic Kidney, Autosomal Dominant / genetics
  • Polycystic Kidney, Autosomal Dominant / physiopathology