ARPKD has an incidence of 1 in 6,000 to 55,000 infants.[1] The causative factor is the mutations in the PKHD1 (chromosomal locus 6p12.2).[2] The disease has a wide clinical variation from stillbirth and neonatal demise to survival into adulthood; the carrier frequency for a PKHD1 mutation is estimated to be about 1:70 in general population. The gene discussed is PKHD1; the disease is autosomal recessive polycystic kidney disease.