title: Effects of rapamycin on angiomyolipomas in patients with tuberous sclerosis.
abstract: BACKGROUND
  Tuberous sclerosis (TS) is a systemic disease, with an autosomal dominant pattern of inheritance caused by mutations in two genes (TSC1 and TSC2) that cause tumours (angiomyolipomas [AML], angiofibromas, astrocytomas). Constant and inadequate proliferation occurring in TS may be blocked by mTOR inhibitors (mammalian target of rapamycin), such as rapamycin.
  
  
  METHODS
  At present, our study includes 17 patients with TS. All had at least one AML greater than 2cm in diameter diagnosed by MRI. They received rapamycin during 12 months. Plasma levels remained stable between 4-8ng/dl. The AML size was monitored every six months by abdominal MRI.
  
  
  RESULTS
  At 12 months of inclusion, MRI indicated a decrease in the size of AML in all patients showing at least a 50% reduction in 82.4% (14/17, 95% CI [56.57%, 96.20%]). The mean percent reduction was 66.3% (95% CI [56.9%, 75.6%], P<.0001). The major side effects observed were: oral aphthous ulcers (5/17); hypertriglyceridemia (3/17); microcytosis and hypochromia (3/17); diarrhea (2/17); acne (1/17); acute pyelonephritis (1/17); and proteinuria (1/17).
  
  
  CONCLUSIONS
  These preliminary clinical data suggest that rapamycin can play a beneficial role in the treatment of TS. Our experience in 17 patients treated for 12 months demonstrates safety and efficacy in reducing AML volume.
authors.affiliation: Nephrology Department, Puigvert Foundation, Autonomous University of Barcelona FP/UAB. Barcelona, Spain. ccabrera@fundacio-puigvert.es
authors.forename: Cristina
authors.initials: C
authors.lastname: Cabrera López
authors.forename: Teresa
authors.initials: T
authors.lastname: Martí
authors.forename: Violeta
authors.initials: V
authors.lastname: Catalá
authors.forename: Ferrán
authors.initials: F
authors.lastname: Torres
authors.forename: Silvia
authors.initials: S
authors.lastname: Mateu
authors.forename: Jose
authors.initials: J
authors.lastname: Ballarín Castán
authors.forename: Roser
authors.initials: R
authors.lastname: Torra Balcells
mesh_terms: D000293:Adolescent; D018207:Angiomyolipoma / Q000188:drug therapy* / Q000209:etiology*; D000903:Antibiotics, Antineoplastic / Q000627:therapeutic use*; D002648:Child; D005260:Female; D006801:Humans; D008297:Male; D020123:Sirolimus / Q000627:therapeutic use*; D014402:Tuberous Sclerosis / Q000150:complications* / Q000188:drug therapy*; D055815:Young Adult
chemical_list: D000903:Antibiotics, Antineoplastic; D020123:Sirolimus