The two affected family members, the index patient (Fam 1 – ID 1) and her newborn son (ID 1.1), impressively illustrate the broad clinical spectrum of ARPKD ranging from severe congenital manifestation to mild CKD in adults depending on the nature and combination of respective PKHD1 alleles (Burgmaier et al., 2019). The gene discussed is PKHD1; the disease is autosomal recessive polycystic kidney disease.