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Tuberous sclerosis complex with autosomal dominant polycystic kidney disease: a rare duo
  1. Jharendra P Rijal1,
  2. Prajwal Dhakal2,
  3. Smith Giri3,
  4. Khagendra V Dahal4
  1. 1Division of Hospital Medicine, Miriam Hospital, Providence, Rhode Island, USA
  2. 2Department of Internal Medicine, Institute of Medicine, Kathmandu, Nepal
  3. 3Department of Medicine, University of Tennessee Health Science Center, Memphis, Tennessee, USA
  4. 4Lakes Region General Hospital, Lanconia, New Hampshire, USA
  1. Correspondence to Dr Smith Giri, smithgiri963{at}


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.

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