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

Jharendra P. Rijal, Prajwal Dhakal, Smith Giri, Khagendra V. Dahal

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4 Scopus citations

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.

Original languageEnglish (US)
Article number207471
JournalBMJ case reports
Volume2014
DOIs
StatePublished - Dec 17 2014
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Medicine(all)

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