31 TuberousSclerosis Complex (TSC) Facts 2017

2017年结节性硬化症(TSC)的31个事实

 

1.  COMPREHENSIVE - Tuberous sclerosis complex (TSC) is a geneticdisorder 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 amutation 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 tuberoussclerosis complex (TSC) are now diagnosed before or soon after birth whenrhabdomyomas (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 everyonedifferently, 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) showsno 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’sdisease (ALS) or cystic fibrosis, tuberous sclerosis complex (TSC) is far lessknown.

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), weredeveloped 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 oneof 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, withmultiple specialists working together, can benefit people with tuberoussclerosis complex (TSC). Most people with TSC do not have access to this styleof 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 peoplewith tuberous sclerosis complex (TSC) have normal intellectual ability, butthey may still experience difficulties with neurological manifestations thataffect their daily life functioning.

神经-尽管一半以上结节性硬化症患者的智力正常,但他们的神经系统异常仍然可影响其日常生活。

 

11.DIAGNOSIS – Thanks to new sequencinggeneration, genetic diagnosis of TSC was substantially improved and should bedone for any people diagnosed with TSC.

诊断-新一代测序技术显著提高了结节性硬化症的基因诊断率,所有的结节性硬化症病人应该做基因检测。

 

12.IMPACT - Tuberous sclerosis complex(TSC) affects more than 200, 000 individuals in China and many more carers, families andfriends who live with the impact of the disease.

影响-在中国,结节性硬化症罹及20多万人群,并牵涉到众多的护理人员和亲朋好友。

 

13.DOCTORS : more than 10 specialists aresometimes needed for a TSC patient.

医生-有时候,一个结节性硬化症病人需要10个以上的专家。

 

14.RESEARCH – Tuberous sclerosis complex(TSC) research contributes to our understanding of cancer, autism, epilepsy andother diseases.

研究-结节性硬化症的研究惠及了我们对肿瘤、自闭症、癫痫和其它疾病的了解。

 

15.WORLDWIDE - Around 1 in 6,000 babies born are affected bytuberous sclerosis complex (TSC). Worldwide, more than 1 million people have TSC.

全世界-每6000新生儿中有一个结节性硬化症患儿,全世界有100万以上的结节性硬化症患者。

 

16.HAPPENING - Every 20 minutes somewhere in the world, a child isborn with tuberous sclerosis complex (TSC).

发生-全世界每隔20分钟就有一个结节性硬化症患者降生。

 

17.ASSOCIATION: All TSC associations around the world are workingtogether to improve life for people living with TSC. In China, it is TSCChina (www.tscchina.org).  

病友组织-中国北京蝴蝶结结节性硬化症罕见病关爱中心 (www.tscchina.org) 正与世界各地的病人组织共同努力,改善结节性硬化症患者的生活。

 

18.FAMILY : Quality of life for partnersand siblings could be substantially affected by TSC.

家庭-结节性硬化症可严重影响伴侣和至亲的生活质量。

 

19.CAUSAL: Tuberous sclerosis complex (TSC) is the most common geneticdisorder associated with epilepsy and autism.

病因-结节性硬化症是最常见伴有癫痫和自闭症的遗传性疾病。

 

20.LESIONS - Angiofibromas are raised red bumps that grow on thefaces of people with tuberous sclerosis complex (TSC).

病变-面部血管纤维瘤是结节性硬化症患者面部红色突起的小包块。

 

21.EPILEPSY - Seizures occur in approximately 85% of people withtuberous sclerosis complex (TSC), making epilepsy the most common brainmanifestation of TSC.

癫痫-约85%的结节性硬化症患者有癫痫发作,因此癫痫是结节性硬化症患者最常见的脑部症状。

 

22.SEIZURES - Infantile spasms are a common type of seizure inbabies with tuberous sclerosis complex (TSC). Vigabatrin is recommended by TSC experts as first line treatment, whereavailable, to control these seizures.

癫痫发作-婴儿痉挛症是结节性硬化症患儿常见的癫痫发作类型。若条件允许,TSC专家推荐氨己烯酸(喜保宁)作为一线治疗药物控制癫痫发作。

 

23.INCURABLE- There is no cure for tuberous sclerosis complex (TSC).

不可根治-结节性硬化症尚无法治愈。

 

24.GLOBAL - TSC International (TSCi) tuberous sclerosis complex(TSC) organisations work with local health care professionals to improve thecare given to the 1 million people around the world living with TSC.

全球-国际结节性硬化症组织(www.tscinternational.org, TSCi)与各地医护人员合作,为全世界100万TSC患者提供更好的关爱。

 

25.OPTIONS - Research in tuberous sclerosis complex (TSC) hasalready provided new treatment options for people with TSC. However, manypeople around the world do not have access to these medicines or therecommended surveillance for TSC.

选择-结节性硬化症的研究已经为结节性硬化症患者提供了新的治疗选择。然而,世界各地的很多患者无法获得这些药物或无法得到推荐的随访。

 

26.SPECTRUM - Almost half of people with tuberous sclerosis complex(TSC) will be diagnosed with an autism spectrum disorder.

疾病谱系-大约一半的结节性硬化症患者有自闭症相关障碍。

 

27.KIDNEYS - Up to 90% of people with tuberous sclerosis complex (TSC)will have tumors in their kidneys called angiomyolipomas.

肾脏-高达90%的结节性硬化症患者有肾脏血管肌脂瘤。

 

28.BURDEN:Tuberous sclerosis complex (TSC) can be associated with considerable diseaseburden for patients and caregivers.

负担-结节性硬化症可对病人和看护人造成沉重的负担。

 

29.BEHAVIOUR- Behavioural difficulties in tuberous sclerosis complex (TSC) caninclude anxiety, depressed mood, overactivity, restlessness, aggression, tempertantrums, self-injury, social communication difficulties and sleep problems.

行为-结节性硬化症行为异常包括焦虑、抑郁、兴奋、坐立不安、攻击、发脾气、自残、社交困难和睡眠障碍。


30.COUNSELING - All people with tuberous sclerosis complex(TSC) should receive genetic counseling when diagnosed.

咨询-所有诊断为结节性硬化症的患者需要得到遗传咨询。


31.LUNGS - Lymphangioleiomyomatosis (LAM) can occur in the lungs ofpeople with tuberous sclerosis complex (TSC), almost exclusively in females. June1 is worldwide LAM awareness day.

肺脏-淋巴管平滑肌瘤病(LAM)几乎仅出现在女性结节性硬化症患者的肺部,6月1日是世界LAM关注日。




北京蝴蝶结结节性硬化症罕见病关爱中心(简称:TSC关爱中心)是2013年7月份在北京民政局注册成功的民办非企业公益机构,前身是中国结节性硬化症互助联盟。成立于2009年。TSC关爱中心是罕见病结节性硬化症患者及其家长自发组织的民间非营利性公益机构,主要提供结节性硬化症病患家庭特殊救助,促进开展结节性硬化症科学研究,建立结节性硬化症相关信息共享。

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2017年结节性硬化症(TSC)的31个事实

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