TSC2/PKD1 Contiguous Gene Deletion Syndrome: A Case Series
TSC2/PKD1 contiguous gene deletion syndrome (CGS) has been associated with a more severe kidney phenotype than observed in autosomal dominant polycystic kidney disease (ADPKD), displaying childhood onset and progression to end-stage kidney disease (ESKD) within the first 3 decades of life. Because recent case reports have suggested a more variable clinical course, we characterized a series of patients with CGS.
