PKHD1 and autosomal recessive polycystic kidney disease: In this study, we describe a case of suspected autosomal recessive polycystic kidney disease (ARPKD) due to a novel variant in PKHD1. The patient in this instance presented with a novel PKHD1 variant (c.2713C>A; p.Gln905Lys) in trans with a previously described pathogenic variant (c.7994T>C; p.Leu2665Pro).