[The ciliopathies--Polycystic Kidney Disease]

The primary cilium is an organelle composed of microtubules that emerges from the cell surface. Its inappropriate structure or function leads to the onset of a series of disease conditions collectively defined as ciliopathies, a class of genetic disorders with a variety of manifestations in different organs. In the kidneys the ciliopathies manifest with renal cysts and propotype diseases are autosomal dominant and autosomal recessive polycystic kidney diseases (ADPKD and ARPKD, respectively) . ADPKD is one of the most frequent genetic disorders affecting 1: 500 to 1: 1000 at birth. It manifests primarily with the formation of cysts in both kidneys that increase in number and size during the life of an individual, eventually causing loss of renal function. ADPKD is caused by mutations in the genes PKD1 (85% of cases) or PKD2 (15% of cases), encoding for polycystin-1 (PC-1) and polycystin-2 (PC-2) respectively. The PC-1/PC-2 complex was found on the primary cilium and elsewhere. Here we summarize recent work from our and other labs suggesting that defective planar cell polarity and cellular shape might underly PKD and additional work suggesting that defective glucose metabolism is a feature of this disease. This is the summary of a presentation delivered during a recent meeting on the genetics of renal diseases.