Effects of rapamycin on angiomyolipomas in patients with tuberous sclerosis
Effects of rapamycin on angiomyolipomas in patients with tuberous sclerosis
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DOI：
10.3265/nefrologia.pre2011.apr.10812
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发表时间：
2011-01-01
期刊：
影响因子：
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通讯作者：
Torra Balcells, R.
中科院分区：
文献类型：
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作者：
Cabrera López, C.;Martí, T.;Torra Balcells, R.
背景资料：动脉硬化症（TS）是一种全身性疾病，具有常染色体显性遗传模式，由两种基因（TSC 1和TSC 2）突变引起，可导致肿瘤（血管平滑肌脂肪瘤[AML]、血管纤维瘤、星形细胞瘤）。TS中发生的恒定和不充分的增殖可以被mTOR抑制剂（雷帕霉素的哺乳动物靶标）如雷帕霉素阻断。材料与方法：目前，我们的研究包括17例TS患者。所有患者均至少有一个直径大于2cm的AML，经MRI诊断。他们在12个月内接受了雷帕霉素。血浆水平稳定在4- 8 ng/dl之间。每6个月通过腹部MRI监测AML大小。结果如下：在入选12个月时，MRI显示所有患者的AML大小减小，显示82.4%的患者至少减小50%（14/17，95% CI [56.57%，96.20%]）。平均下降百分比为66.3%（95%CI [56.9%，75.6%]，P
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. Material and 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% Cl [56.57%, 96.20%]). The mean percent reduction was 66.3% (95% Cl [56.9%, 75.6%], P