2016 TSC Global Awareness Day

31 Facts

2016国际结节性硬化症关注日

31个事实

 

1. 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.

结节性硬化症是一种遗传病,可导致脑、眼睛、心脏、肾脏、肝脏、肺和皮肤等重要器官发生肿瘤。

2.  Tuberous sclerosis complex (TSC) is caused by a mutation in either the TSC1 or TSC2 genes. 

结节性硬化症由TSC1TSC2基因上发生致病性突变引起。

3. 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.

许多结节性硬化症患儿在出生前或出生后通过常规超声检测被发现心脏横纹肌瘤(一种心脏肿瘤)而得以确诊。

4. Tuberous sclerosis complex (TSC) affects everyone differently, even identical twins.  

结节性硬化症患者表现不尽相同,即使是同卵双胞胎

5. Tuberous sclerosis complex (TSC) shows no gender bias and occurs in all races and ethnic groups.

结节性硬化症的发生无性别差异,可出现在所有人种和民族

6. More common than Lou Gehrig’s disease (ALS) or cystic fibrosis, tuberous sclerosis complex (TSC) is far less known.

尽管结节性硬化症比肌萎缩侧索硬化(渐冻人)和囊性纤维化常见, 它却鲜为人知。

7. 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.

治疗结节性硬化症的依维莫司和雷帕霉素得益于科学家对源自复活节岛土壤中细菌的研究

8. The TAND Checklist is a screening tool to help identify TSC-Associated Neuropsychiatric Disorders (TAND). Every person with tuberous sclerosis complex (TSC) should be screened for TAND at least once a year with the help of a doctor or nurse. The TAND Checklist is freely downloadable from the internet.  http://tscinternational.org/pages.aspx?content=14

结节性硬化症相关神经精神症状(TAND检查单是一帮助发现TAND的筛查工具。在医生或护士的指导下,每一位TSC病人需要每年至少进行一次筛查。TAND检查单可从网上免费下载。http://tscinternational.org/pages.aspx?content=14

9. 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.

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. At least half of people with tuberous sclerosis complex (TSC) have normal intellectual ability, but they may still experience difficulties with neurological manifestations that affect their daily life functioning.

尽管一半以上的结节性硬化症患者的智力是正常的,但他们的神经系统表现障碍仍然可影响其日常生活。

11. Yearly blood pressure checks and urine tests are recommended for people with tuberous sclerosis complex (TSC) to monitor how well their kidneys are working.

为了监测肾脏功能,建议结节性硬化症患者每年测量血压和检查尿液。

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

在中国,20多万人群罹患结节性硬化症,并牵涉到更多的护理人员和亲朋好友。

13. People with tuberous sclerosis complex (TSC) should see an ophthalmologist when diagnosed and annually thereafter to check for eye and vision problems.

结节性硬化症患者在确诊之初及后续每年,应让眼科大夫检测是否有眼睛和视力问题

 

14. Research into cancer, autism, epilepsy and other diseases is benefiting from tuberous sclerosis complex (TSC) research.

结节性硬化症的研究惠及了对肿瘤、自闭症、癫痫和其它疾病的了解。

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

6000新生婴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. Every 20 minutes somewhere in the world a child is born with tuberous sclerosis complex (TSC).

地球上,每隔20分钟就有一个结节性硬化症患者降生。

17. People with tuberous sclerosis complex (TSC) should have regular check-ups to monitor the disease and treat appropriately. Guidelines are available to describe the monitoring recommended by international experts in TSC. You can view these at www.tscinternational.org/documents/TSCi%20Consensus%20Guidelines.pdf.

结节性硬化症患者需要常规体检以监测其病情和得到合适的治疗,从以下链接下载国际结节性硬化症专家制定的监测指南。www.tscinternational.org/documents/TSCi%20Consensus%20Guidelines.pdf.

 

18. Magnetic resonance imaging (MRI) of the brain is recommended every 1-3 years until the person with tuberous sclerosis complex (TSC) is 25 years old. This is to look for a growth in the brain called a subependymal giant cell astrocytoma (SEGA) that can be life-threatening if left untreated.

建议结节性硬化症(TSC)患者25岁之前,1 - 3年作脑磁共振成像,以帮助发现颅内巨室管膜下细胞星形细胞瘤(SEGA),如果不治疗,SEGA可危及生命。

 

19. Tuberous sclerosis complex (TSC) is the most common genetic disorder associated with epilepsy and autism.

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. Angiofibromas are raised red bumps that grow on the faces of people with tuberous sclerosis complex (TSC). These generally appear by 5 years of age and affect up to 90% of individuals with TSC.

面部血管纤维瘤是结节性硬化症患者面部出现红色突起的小包块,一般在5岁以后出现,累及90%患者。

21. Daily application of broad spectrum sunscreen is recommended by tuberous sclerosis complex (TSC) experts. This is because UV radiation contributes to forming angiofibromas, one of the signs of TSC on the skin.

因为紫外线辐射会促进面部血管纤维瘤的形成,结节性硬化症专家建议每天用广谱防晒霜。

22. Seizures occur in approximately 85% of people with tuberous sclerosis complex (TSC), making epilepsy the most common brain manifestation of TSC.

多达85%的TSC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。

23. Very large mutations involving the TSC2 gene and adjacent PKD1 gene on chromosome 16 can lead to severe polycystic kidney disease during childhood. This occurs in less than 5% of people with tuberous sclerosis complex (TSC).

不到5%的结节性硬化症患者16号染色体的TSC2基因与其相邻的PKD1基因发生大片段突变(缺失),儿童时期就可有严重的多囊肾。

24. Infantile spasms are a common type of seizure in babies with tuberous sclerosis complex (TSC).  Vigabatrin is recommended by TSC experts as first line treatment, where available, to control these seizures.

婴儿痉挛症是结节性硬化症(TSC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

 

25. There is no cure for tuberous sclerosis complex (TSC).

结节性硬化症尚无法治愈。

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

国际结节性硬化症组织(TSCi)与各地医护人员合作,为全世界100TSC患者提供更多的关爱

27. Research in tuberous sclerosis complex (TSC) has already provided new treatment options for people with TSC. However, many people around the world do not have access to these medicines or the recommended surveillance for TSC.

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病情监测

 

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

大约一半的结节性硬化症患者有自闭症相关障碍。

29. Up to 90% of people with tuberous sclerosis complex (TSC) will have tumors in their kidneys called angiomyolipomas. Regular MRIs are recommended to monitor these tumors and minimise complications.

高达90%的结节性硬化症患者有肾脏血管肌脂瘤。建议常规核磁共振监测这些肿瘤,减少并发症。

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

所有诊断为结节性硬化症的患者需要得到遗传咨询。

31. Lymphangioleiomyomatosis (LAM) can occur in the lungs of people with tuberous sclerosis complex (TSC), almost exclusively in females. High resolution computed tomography is a test recommended for all adult women with TSC to test for LAM. June 1 is worldwide LAM awareness day.

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。建议所有TSC成年女性利用高分辨率CT检测LAM61日是世界LAM关注日。


2016国际结节性硬化症关注日 31个事实!在此特别感谢:北京协和医学基础研究院 张宏冰教授团队 的翻译!


2016 TSC Global Awareness Day 31 Facts (2016国际结节性硬化症关注日 31个事实)

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