PKD1 and autosomal recessive polycystic kidney disease: These patients can be phenotypically indistinguishable from ARPKD patients, but they harbor multiple mutations in ADPKD genes PKD1 and/or PKD2; in rare cases in combination with mutations in another gene, HNF1β/TCF2 (hepatocyte nuclear factor 1β/transcription factor 2) [12].