Autosomal recessive polycystic kidney disease: atypical phenotype

In a 5-year-old boy with renal ultrasound findings typical of autosomal recessive polycystic kidney disease (ARPKD), numerous large liver cysts were found – atypical for this disease. Genetic analyses revealed heterozygous missense mutations in the PKHD1 gene. Mutations in genes underlying polycystic liver disease could be excluded. In summary, comprehensive genetic analyses are crucial for the case-related clarification of polycystic kidney disease.