Tuberous Sclerosis Complex

Alexander Jerman, J. Lindič
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引用次数: 8

Abstract

Tuberous sclerosis complex is a genetic disorder characterized by the growth of numerous noncancerous (benign) tumors in many parts of the body. These tumors can occur in the skin, brain, kidneys, and other organs, in some cases leading to significant health problems. Tuberous sclerosis complex also causes developmental problems, and the signs and symptoms of the condition vary from person to person.
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结节性硬化症。
结节性硬化症是一种遗传性疾病,在各种组织中以良性肿瘤生长为特征。临床表现非常不均匀,导致诊断困难和无法识别患者。在这篇文章中,我们提出病理生理基础,了解临床图片和结节性硬化症的诊断。皮肤、中枢神经系统、肾脏和心脏是最常见的受累部位。病程是进行性的。虽然绝大多数病变是良性的,但预期寿命和生活质量受到其继发影响。直到最近,这种疗法还只是症状性的,但现在mTOR复合物的抑制剂,如依维莫司,在减少肿瘤生长方面是有效的。
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