title: Treatment of renal angiomyolipoma in tuberous sclerosis complex (TSC) patients.
abstract: In adult tuberous sclerosis complex (TSC) patients, renal complications are the leading cause of death. Beginning in childhood, up to 80 % of patients develop renal angiomyolipoma characterized by a size-dependent risk of life-threatening bleeding. After discovery of the two causative genes, TSC1 and TSC2, and the role of mammalian target of rapamycin (mTOR) regulation in the pathogenesis of TSC, an increasing number of clinical studies evaluating mTOR inhibition in TSC patients have shown impressive results in many organ manifestations, such as brain, lung, and kidney. For renal angiomyolipoma, mTOR inhibitor treatment fundamentally changed the approach from preventive embolization or even partial nephrectomy to everolimus treatment in order to preserve kidney function.
authors: Department of Internal Medicine, Division of Nephrology, Charité Campus Mitte, Berlin, Germany. Susanne.brakemeier@charite.de.
authors: S
authors: http://orcid.org/0000-0003-3845-211X
authors: S
authors: Brakemeier
authors: Department of Internal Medicine, Division of Nephrology, Charité Campus Mitte, Berlin, Germany.
authors: F
authors: F
authors: Bachmann
authors: Department of Internal Medicine, Division of Nephrology, Charité Campus Mitte, Berlin, Germany.
authors: K
authors: K
authors: Budde
mesh_terms: D018207:Angiomyolipoma / Q000175:diagnosis / Q000209:etiology / Q000628:therapy*; D000970:Antineoplastic Agents / Q000627:therapeutic use*; D002648:Child; D004621:Embolization, Therapeutic; D000068338:Everolimus / Q000627:therapeutic use; D006801:Humans; D007668:Kidney / Q000503:physiopathology / Q000601:surgery; D007676:Kidney Failure, Chronic / Q000175:diagnosis / Q000517:prevention & control; D007677:Kidney Function Tests; D007680:Kidney Neoplasms / Q000175:diagnosis / Q000209:etiology / Q000628:therapy*; D009154:Mutation; D009392:Nephrectomy; D015398:Signal Transduction; D020123:Sirolimus / Q000627:therapeutic use; D058570:TOR Serine-Threonine Kinases / Q000037:antagonists & inhibitors* / Q000378:metabolism; D014402:Tuberous Sclerosis / Q000150:complications* / Q000235:genetics / Q000628:therapy; D000077004:Tuberous Sclerosis Complex 1 Protein; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins / Q000235:genetics
chemical_list: D000970:Antineoplastic Agents; C000624650:TSC1 protein, human; C000624653:TSC2 protein, human; D000077004:Tuberous Sclerosis Complex 1 Protein; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins; D000068338:Everolimus; C546842:MTOR protein, human; D058570:TOR Serine-Threonine Kinases; D020123:Sirolimus
keywords: AML; TSC; mTOR inibitor treatment