When we pointed out the description “polycystic kidney and hepatic disease 1 (autosomal recessive)” associated with the PKHD1 variant, she said “that’s really scary.” She rapidly began contextualizing the kidney and liver disease within a genetic framework, leaping to the conclusion that a change in this gene could be the cause. This evidence concerns the gene PKHD1 and autosomal recessive polycystic kidney disease.