Autosomal Recessive Polycystic Kidney: Molecular Pathophysiology

Autosomal recessive polycystic kidney disease (ARPKD) - Molecular Pathophysiology: Mutations in PKHD1 and DZIP1L underlie the pathogenesis of ARPKD. PKHD1 encodes fibrocystin (aka polyductin) that is highly expressed in the epithelial lining of the collecting ducts and ascending loops of Henle. Small amounts of fibrocystin are also expressed in pancreatic and bile duct epithelium. Like polycystin 1 and polycystin 2, this integral membrane protein is a component of the primary cilium of tubular epithelial cells and its dysfunction underlies the formation of cysts. DZIP1L localizes to the centrioles and distal end of the basal body and is required for transporting gene products into the ciliary axoneme. Image Credit: Cordido A, Vizoso-Gonzalez M, Garcia-Gonzalez M. Molecular Pathophysiology of Autosomal Recessive Polycystic Kidney Disease. Int. J. Mol. Sci. 2021, 22(12), 6523; https://doi.org/10.3390/ijms22126523; used under Creative Commons Attribution (CC BY) license.