Inherited Diseases of the Kidney
Polycystic kidney diseases (PKD) are single gene disorders of kidney structural homeostasis that causes fluid-filled cysts to form and expand in the kidneys. The cysts enlarge and cause secondary processes, which eventually harm kidney function and lead to chronic kidney disease. The liver is also affected by cysts originating from the bile ducts and, while liver function is typically preserved, the cysts can sometimes grow so large that they cause symptoms. Kidney and liver cysts can occur alone or together in families, and at least 10 different genes have been identified that cause these human diseases. However, amongst these genes, only PKD1 and PKD2 are known to result in kidney failure due to PKD.