Hepatocyte nuclear factors play an important role in the pathogenesis of nephropathy

Most of the identified Hnf1β target genes in the kidney, such as PKHD1, PKD2 and UMOD, colocalize to the primary cilium, a crucial organelle that plays an important role in controlling the proliferation of tubular cells and is implicated in a broad range of human monogenic renal cystic diseases. [...]Hnf1b knockout in mice led to a polycystic phenotype and Hnf1b mutations in zebrafish affected pronephros development leading to cystic pronephric tubules. A meta-analysis of published gene expression arrays in 1114 human kidney cystic tissue samples carrying PKD1 mutations suggested metabolic pathways are key elements in postnatal kidney maturation and early stages of cyst formation. Systems biology of autosomal dominant polycystic kidney disease (ADPKD): computational identification of gene expression pathways and integrated regulatory networks.