Genetic analysis of a peripheral blood sample revealed a missense mutation, c.274C>T (p.Arg92Trp), in exon 4, and a nonsense mutation, c.2770C>T (p.Gln924∗), in exon 26, confirming the diagnosis of ARPKD with PKHD1 mutation. The gene discussed is PKHD1; the disease is autosomal recessive polycystic kidney disease.