Autoszomális recesszív
Caused by changes in both copies of the CEP164 gene, which is needed for the formation of primary cilia, small antenna-like structures on cells. It belongs to the nephronophthisis-related ciliopathies.
Tünetek és jelek
Nephronophthisis, a progressive cystic kidney disease that can progress to kidney failure.
Mit változtat a diagnózis
Regular monitoring of kidney function and blood pressure, with dialysis or kidney transplantation when kidney failure develops. Parents of an affected child are usually both carriers, so genetic counselling and carrier testing can be offered.
Vizsgált gének
Más néven
ciliopathy-CEP164
1 kapcsolódó altípust tartalmaz ↓Altípusok elrejtése ↑
- nephronophthisis 15
MONDO:0700344Források: [1][2][3]
