Autosomal recessive polycystic kidney disease (ARPKD) had a low incidence, and mainly in neonates or infants. It is caused by mutations of the polycystic kidney and hepatic disease 1 gene (PKHD1). The pathogenesis of ARPKD is still not clear. The principal of treatment is focused on the control of complications and slow down the progression. In this article, the research advances in the pathogenesis and treatment of ARPKD was reviewed.