Omkolsoum M Alhaddad, Maha M Elsabaawy, Omar A Shaarawy, Nermine A Ehsan, Doha Maher, Dina Alazab and Eman A Rewisha
Congenital hepatic fibrosis is a rare, mostly autosomal recessive disorder that belongs to the group of diseases known as fibrocystic hepatic disorders. The fibrocystic hepatic disorders include Caroli’s disease, Von Meyenburg complex (multiple biliary hamartomas) and polycystic liver diseases. Disordered maturation of the ductal plates representing the embryonic skeleton of the intrahepatic biliary ducts had been acknowledged as ductal plate malformations (DPMs). These DPMs are portraying the pathogenetic background for the fibrocystic hepatic disorders. CHF had mostly been described in the context of autosomal recessive polycystic kidney disease. Mutations of the polycystic kidney and hepatic disease 1 (PKHD1) gene have been documented in ARPKD/CHF. Fibrocystin; a transmembrane protein encoded by PKHD1 gene, is located in the renal tubular and bile duct epithelial cells and thought to be important in tubulogenesis and the three-dimensional ductal structure. Fibrocystin had been found to be lacking on the inheritable combined biliary-renal disorders.
