Journal article
Tuberous sclerosis complex with autosomal dominant polycystic kidney disease: a rare duo
BMJ case reports, Vol.2014(dec17 1), pp.bcr2014207471-bcr2014207471
2014
DOI: 10.1136/bcr-2014-207471
PMCID: PMC4275747
PMID: 25519866
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.
Details
- Title: Subtitle
- Tuberous sclerosis complex with autosomal dominant polycystic kidney disease: a rare duo
- Creators
- Jharendra P Rijal - Miriam HospitalPrajwal Dhakal - KathmanduSmith Giri - University of Tennessee Health Science CenterKhagendra V Dahal - Lakes Region General Hospital
- Resource Type
- Journal article
- Publication Details
- BMJ case reports, Vol.2014(dec17 1), pp.bcr2014207471-bcr2014207471
- DOI
- 10.1136/bcr-2014-207471
- PMID
- 25519866
- PMCID
- PMC4275747
- ISSN
- 1757-790X
- eISSN
- 1757-790X
- Language
- English
- Date published
- 2014
- Academic Unit
- Hematology, Oncology, and Blood & Marrow Transplantation; Internal Medicine
- Record Identifier
- 9984359956402771
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