,32 In our study, 7 out of 157 patients had pathogenic variants in cystic kidney disease-related genes, excluding IFT140, PKD1, and PKD2. Three patients had HNF1B pathogenic variants, 2 patients had pathogenic variants in PKHD1, and 1 patient each had pathogenic variants in OFD1 and NPHP4 (Figure 1). The gene discussed is PKHD1; the disease is cystic kidney disease.