The deletion of both genes leads to the development ofsevere renal cystic disease, which shares similar radiological and morphological features with ADPKD [9].In a study by Sampson et al., constitutional deletions of TSC2 and PKD1 genes were linked to severe renal cystic disease, which resembledthe clinical presentation of ADPKD. Here, TSC2 is linked to cystic kidney disease.