Gene PKHD1
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Also known as
ARPKD, FCYT, Fibrocystin, PolyductinOverview
PKHD1 (Polycystic Kidney and Hepatic Disease 1) encodes a large membrane receptor protein called fibrocystin or polyductin. This protein is primarily expressed in the kidney, liver, and pancreas, where it localizes to primary cilia and plays a crucial role in cell signaling, tubulogenesis, and the maintenance of normal tissue architecture. The exact function of fibrocystin is not fully understood, but it is thought to be involved in regulating cell proliferation, differentiation, and secretion in epithelial cells lining kidney tubules and bile ducts.Mutations in PKHD1 cause autosomal recessive polycystic kidney disease (ARPKD), a severe inherited disorder characterized by enlarged kidneys with numerous cysts and congenital hepatic fibrosis. ARPKD typically presents in infancy or childhood, though milder cases may not be diagnosed until later in life. The severity of kidney and liver involvement varies, with some patients requiring kidney transplantation or experiencing complications from liver fibrosis such as portal hypertension. Early genetic testing can facilitate diagnosis and management, including prenatal counseling for at-risk families.