Autosomal recessive polycystic kidney disease is one of the most common pediatric, hereditary nephropathies. The clinical spectrum is variable and depends on the age at presentation, ranging from stillbirth and neonatal demise to survival into adulthood. A considerable portion of children with autosomal recessive polycystic kidney disease have associated asymptomatic Caroli disease of the liver.
Autosomal recessive polycystic kidney disease is caused by mutation in the polycystic kidney and hepatic disease 1 (PKHD1) gene, mapped to chromosome 6p21.1-p12.