PKD2

About PKD2

PKD2 on chromosome 4q22.1 encodes polycystin 2, a calcium permeable cation channel of the TRP family that forms a complex with polycystin 1, the product of PKD1. The complex is located in the primary cilium, a sensory antenna on kidney tubule cells, and is thought to help regulate cell proliferation and tubule diameter. Variants in PKD2 account for a minority of autosomal dominant polycystic kidney disease, the most common inherited kidney disease, with most remaining cases caused by PKD1. PKD2 related disease is generally milder than PKD1 related disease, with cysts developing more slowly and kidney failure occurring later on average. Both forms can involve liver cysts and intracranial aneurysms. Tolvaptan, a vasopressin receptor antagonist, is approved to slow kidney growth and functional decline in people at risk of rapid progression.