2017 年结节性硬化症 - Tuberous Sclerosis Complex International.PDF

2017 年结节性硬化症（TSC ）的31 个事实 1. COMPREHENSIVE - Tuberous sclerosis complex (TSC) is a genetic disorder that causes tumors to form in vital organs, primarily the brain, eyes, heart, kidneys, liver, lung and skin. 概况- 结节性硬化症是一种遗传病，可导致脑、眼睛、心脏、肾脏、肝脏、肺脏 和皮肤等重要器官发生肿瘤。 2. GENETIC - Tuberous sclerosis complex (TSC) is caused by a mutation in either the TSC1 or TSC2 genes. 遗传- 结节性硬化症由TSC1 或TSC2 基因发生致病性突变引起。 3. EARLY - Many babies with tuberous sclerosis complex (TSC) are now diagnosed before or soon after birth when rhabdomyomas (a type of heart tumor) are detected during routine ultrasounds. 早期- 许多结节性硬化症患儿在出生前或出生后可通过常规心脏超声检查发现 心脏横纹肌瘤 （一种心脏肿瘤）而得以确诊。 4. DIVERSE - Tuberous sclerosis complex (TSC) affects everyone differently, even identical twins. 多样性- 结节性硬化症患者表现不尽相同，即使是同卵双胞胎。 5. ANYBODY - Tuberous sclerosis complex (TSC) shows no gender bias and occurs in all races and ethnic groups. 任何人- 结节性硬化症的发生无性别差异，可见于所有种族。 6. COMMON - More common than Lou Gehrig’s disease (ALS) or cystic fibrosis, tuberous sclerosis complex (TSC) is far less known. 普遍- 尽管结节性硬化症比肌萎缩侧索硬化 （渐冻人）或囊性纤维化常见，它 却鲜为人知。 7. SCIENCE - Everolimus and rapamycin, which are used to treat some aspects of tuberous sclerosis complex (TSC), were developed thanks to scientists studying bacteria in the soil of Easter Island. 科学- 治疗结节性硬化症的依维莫司和雷帕霉素得益于科学家们对源自复活节 岛土壤中细菌的研究。 8. RARE – TSC is one of the 7000 rare diseases in the world. 罕见病- 结节性硬化症是7000 种罕见病的一种。 9. INTERDISCIPLINARY - A team approach to health care, with multiple specialists working together, can benefit people with tuberous sclerosis complex (TSC). Most people with TSC do not have access to this style of care. 学科之间- 多学科的专家协作诊疗可让结节性硬化症患者受益，但多数患者尚 未惠及。 10. NEUROLOGICAL - At least half of people with tuberous sclerosis complex (TSC) have normal intellectual ability, but they may still experience difficulties with neurological manife