Tuberous sclerosis complex with autosomal dominant polycystic kidney disease: A rare duo

Academic Article

Abstract

  • Tuberous sclerosis complex (TSC) is an autosomal dominant condition characterised by the presence of multiple hamartomas in various organ systems in the body. The kidneys are affected in 80% of patients, usually in the form of renal angiomyolipomas, renal cysts or renal cell carcinoma. Although extremely rare, TSC and autosomal dominant polycystic kidney disease (ADPKD) can co-exist in the same patient as a result of concurrent deletion of both polycystic kidney disease (PKD) 1 and TSC2 genes present on the chromosome 16p13.3. These patients develop end-stage renal disease at an earlier age and have an increased risk of malignancy. We present a case of a 30-year-old man with a history of tuberous sclerosis, presenting with loin pain and subsequently diagnosed to have ADPKD.
  • Authors

    Published In

  • BMJ Case Reports  Journal
  • Digital Object Identifier (doi)

    Author List

  • Rijal JP; Dhakal P; Giri S; Dahal KV
  • Volume

  • 2014