Polycystic kidney disease: << 30 ans apres >>

Major progress has been achieved in autosomal dominant polycystic kidney di sease in the last 30 years; Progress in imaging procedures has been decisiv e for diagnosis (by ultasonography), management of kidney and liver complic ations (by CT scan), and investigation and sometimes management of intracra nial aneurysms (by MRI-angiography and endovascular treatment procedures). On the other hand, progress in molecular genetics has led to the identifica tion 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 th e disease, underlining that the primary molecular defect is located upstrea m of the mechanism of cyst formation.