title: Tuberous sclerosis complex with autosomal dominant polycystic kidney disease: a rare duo.
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.affiliation: Division of Hospital Medicine, Miriam Hospital, Providence, Rhode Island, USA.
authors.forename: Jharendra P
authors.initials: JP
authors.lastname: Rijal
authors.affiliation: Department of Internal Medicine, Institute of Medicine, Kathmandu, Nepal.
authors.forename: Prajwal
authors.initials: P
authors.lastname: Dhakal
authors.affiliation: Department of Medicine, University of Tennessee Health Science Center, Memphis, Tennessee, USA.
authors.forename: Smith
authors.initials: S
authors.lastname: Giri
authors.affiliation: Lakes Region General Hospital, Lanconia, New Hampshire, USA.
authors.forename: Khagendra V
authors.initials: KV
authors.lastname: Dahal
mesh_terms: D000328:Adult; D002885:Chromosomes, Human, Pair 16; D006801:Humans; D007668:Kidney / Q000473:pathology*; D008297:Male; D009154:Mutation; D016891:Polycystic Kidney, Autosomal Dominant / Q000150:complications* / Q000235:genetics; D051437:Renal Insufficiency / Q000209:etiology; D050396:TRPP Cation Channels / Q000235:genetics; D014402:Tuberous Sclerosis / Q000150:complications* / Q000235:genetics; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins / Q000235:genetics
chemical_list: D050396:TRPP Cation Channels; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins; C000624653:TSC2 protein, human