PKHD1 and Renal cyst: In ID2.1, a 47-year-old female with negative family history, bilateral childhood-onset cystic kidneys and ESRD at age 30, two pathogenic, previously reported, compound heterozygous PKHD1 missense variants were identified (c.4870C>T, p.Arg1624Trp and c.9370C>T, p.His3124Tyr)13,14 (Table 1, Fig. 4).