WCN26-3834 Combination Therapy with Tolvaptan and Everolimus in Two Adult Sisters with PKD1/TSC2 Contiguous Gene Syndrome

PKD1/TSC2 contiguous gene syndrome (CGS) is a rare disorder caused by a large chromosomal deletion involving both the PKD1 and TSC2 genes on chromosome 16p13.3, resulting in clinical manifestations of both autosomal dominant polycystic kidney disease (ADPKD) and tuberous sclerosis complex (TSC). While tolvaptan, a vasopressin V2 receptor antagonist, has been proven to slow kidney volume growth and renal function decline in ADPKD, and everolimus, an mTOR inhibitor, is effective in reducing renal angiomyolipoma (AML) size in TSC, no previous reports have described their combined use in PKD1/TSC2 CGS.