Department of Nephrology, Baskent University School of Medicine, Baskent University Adana Teaching and Research Hospital, Yuregir-Adana, Turkey.
Ren Fail. 2010;32(10):1233-6. doi: 10.3109/0886022X.2010.517345.
Tuberous sclerosis complex (TSC) is an inherited multisystem disorder; it may involve kidney, brain, skin, lungs, and liver. We report a 37-year-old female TSC patient presenting with skin lesions (angiofibromas, molluscum pendulum). Radiologic examination revealed additional brain and renal lesions consisting of tumors, cysts, and angiomyolipomas. Treatment with rapamycin disclosed improvement in skin lesions. The number and volume of angiofibromas and molluscum pendulum reduced progressively in 6 months. During the ninth month of treatment, magnetic resonance imaging was repeated for renal and brain lesions. Imaging results showed reduction in tumor and angiomyolipoma volumes. Oral rapamycin therapy can improve renal, brain, and skin lesions in TSC disease. Therefore, it may be an alternative therapy for TSC patients.
结节性硬化症(TSC)是一种遗传性多系统疾病;它可能涉及肾脏、大脑、皮肤、肺和肝脏。我们报告了一名 37 岁的女性 TSC 患者,其表现为皮肤损伤(血管纤维瘤、悬雍垂状软纤维瘤)。放射学检查显示,大脑和肾脏还有肿瘤、囊肿和血管平滑肌脂肪瘤等病变。雷帕霉素治疗显示皮肤损伤有所改善。血管纤维瘤和悬雍垂状软纤维瘤的数量和体积在 6 个月内逐渐减少。在治疗的第 9 个月,对肾脏和大脑病变进行了磁共振成像复查。成像结果显示肿瘤和血管平滑肌脂肪瘤体积减少。口服雷帕霉素治疗可改善 TSC 患者的肾脏、大脑和皮肤病变。因此,它可能是 TSC 患者的一种替代治疗方法。