title: Low-dose rapamycin reduces kidney volume angiomyolipomas and prevents the loss of renal function in a patient with tuberous sclerosis complex.
abstract: Tuberous sclerosis complex (TSC) is caused by constitutively activated mammalian target of rapamycin (mTOR) resulting in non-malignant tumours of several organs including renal angiomyolipomas (AMLs). AMLs may originate renal failure, hypertension and spontaneous life-threatening bleeding. Recent reports suggest a possible beneficial role of the mTOR inhibitor rapamycin for TSC. However, safety and efficiency of rapamycin in TSC patients as an anti-proliferative agent are still undefined. A 40-year-old man with sporadic TSC and a history of spontaneous bleeding from his left kidney AMLs received low-dose rapamycin for 12 months, and this was associated with a reduction in bilateral kidney AML volume, stabilization and even improvement of renal function. There was also a reduction of facial angiofibromas, improvement of blood pressure control and absence of AML bleeding over this time period. Brain lesion images remained stable, and no significant rapamycin-associated side effects were noted. To the best of our knowledge, this is the first report of a case of reduction in renal AML volume together with preservation of renal function in a patient with TSC receiving low-dose rapamycin. These data suggest that it could be the result of the anti-angiogenic, anti-fibrotic and anti-proliferative effects of rapamycin.
authors.affiliation: Servicio de Nefrología, Hospital Universitario La Paz, Madrid, Spain. cpeces@varnetmail.com
authors.forename: Ramón
authors.initials: R
authors.lastname: Peces
authors.forename: Carlos
authors.initials: C
authors.lastname: Peces
authors.forename: Emilio
authors.initials: E
authors.lastname: Cuesta-López
authors.forename: Virginia
authors.initials: V
authors.lastname: Pérez-Dueñas
authors.forename: Cristina
authors.initials: C
authors.lastname: Vega-Cabrera
authors.forename: Sebastián
authors.initials: S
authors.lastname: Azorín
authors.forename: Rafael
authors.initials: R
authors.lastname: Selgas
mesh_terms: D000328:Adult; D018207:Angiomyolipoma / Q000188:drug therapy*; D006801:Humans; D007668:Kidney / Q000473:pathology / Q000503:physiopathology; D007680:Kidney Neoplasms / Q000188:drug therapy*; D008279:Magnetic Resonance Imaging; D008297:Male; D020123:Sirolimus / Q000627:therapeutic use*; D058570:TOR Serine-Threonine Kinases / Q000037:antagonists & inhibitors*; D014402:Tuberous Sclerosis / Q000188:drug therapy* / Q000473:pathology / Q000503:physiopathology
chemical_list: D058570:TOR Serine-Threonine Kinases; D020123:Sirolimus