PKHD1 and autosomal recessive polycystic kidney disease: The polycystic kidney and hepatic disease 1 (PKHD1) gene has been identified as the causative gene for ARPKD [1, 2], with 590 types of pathogenic mutation reported in The Human Gene Mutation Database to date (http://www.hgmd.cf.ac.uk, HGMD).