Polycystic kidney disease: <<30 ans après>>.
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.
Grünfeld
J P
JP
Service de Néphrologie, Hôpital Necker, Paris, France.
Chauveau
D
D
Joly
D
D
Fonck
C
C
Oualim
Z
Z
D000818:Animals; D018450:Disease Progression; D006801:Humans; D007690:Polycystic Kidney Diseases / Q000150:complications / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D016891:Polycystic Kidney, Autosomal Dominant / Q000150:complications / Q000235:genetics / Q000503:physiopathology