Those with TSC2/PKD1 contiguous gene syndrome generally present with severe cystic disease and renal insufficiency in their first year of life.38, –40 In a study of 17 such patients, all reached ESKD by age 29 years with hypertrophic kidneys that resembled advanced autosomal dominant polycystic kidney disease (PKD), while five were incorrectly diagnosed as autosomal recessive or early-onset autosomal dominant PKD due to cysts preceding other TSC features.40 This evidence concerns the gene TSC2 and tuberous sclerosis.