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Porcelain dolls, sleeping beauties, moon children, the fairy tale world you thought was a disease-written on "World Rare Disease Day" on February 29

Author: Xu Jia Source: NET / DXZM hits: 4771 Time: 2016/2/29

、认识罕见病: 1. Recognize rare diseases:

瓷娃娃 学名 成骨不全症 ,他们的一生中可能要经历几十次甚至上百次的骨折,对于一些严重的患者,哪怕一个拥抱或是哈哈大笑都会有骨折的可能,成骨不全症的发病率为 1/10000 ,中国约有 10 万患者。 The " Porcelain Doll " scientific name is " osteogenesis imperfecta " , and they may experience dozens or even hundreds of fractures in their lives. For some serious patients, even a hug or a laugh may have a fracture. The incidence of osteodystrophy is 1 in 10,000 and there are about 100,000 patients in China . 月亮孩子 指的 是白化病患儿,他们的头发和皮肤都是雪白的,极易被阳光晒,正常的孩子不愿意跟他们一切玩耍,他们甚至常被幼儿园拒之门外。 " Moon child " refers to children with albinism. Their hair and skin are white, and they are easily exposed to the sun. Normal children do not want to play with them, and they are often turned away from kindergartens. 不食人间烟火的天使 是人们对苯丙酮尿症患者的形容,他们不能吃普通的鸡蛋、牛奶、米面等蛋白质含量高的食物,他们需要终生依靠特殊食品来维持健康。 " Angels that don't eat human fireworks " are people's descriptions of phenylketonuria patients. They can't eat ordinary eggs, milk, rice noodles and other high-protein foods. They need to rely on special foods for life to maintain health. ——“ 罕见病 These diseases have a common name- " rare diseases " .

患病人数占总人口的千分之 0.65 到千分之 1 的疾病 ,也就是说每 1 万人里只有 6-10 位患者。 The World Health Organization defines a rare disease as " a disease that affects 0.65 to 1 in 1,000 people, " meaning that there are only 6-10 patients per 10,000 people . 7000 种,约占人类疾病的 10% ,据估计我国各类罕见病患者超过 1000 万人。 There are nearly 7,000 rare diseases recognized internationally , accounting for about 10% of human diseases . It is estimated that there are more than 10 million people with various rare diseases in China . 的罕见病没有治疗方法,比如进行性肌营养不良,由于患者的骨骼肌逐渐萎缩,通常在 12 岁左右失去独立行走能力。 95% of rare diseases have no treatment, such as progressive muscular dystrophy, and patients' skeletal muscles gradually shrink and usually lose their ability to walk independently around the age of 12 . 200 万人民币,并且需要终身治疗。 There are effective treatments for some rare diseases, but they are expensive. Take Gaucher's disease as an example, the annual medical cost is about 2 million yuan, and it requires life-long treatment. There are also some rare diseases that can be treated abroad, but due to policy reasons, drugs cannot be introduced into China. So you can only wait for foreign pharmaceutical companies to register in the country, otherwise you won't get your life if you have money.

、为什么会产生罕见病? 2. Why are there rare diseases?

7 组到 10 组基因存在缺陷,一旦父母双方存在相同的缺陷基因,孩子就有可能患上罕见病。 On average, about 7 to 10 genes are defective in each person's genes. Once both parents have the same defective gene, the child may develop a rare disease. 是由于基因缺陷所导致,这意味着罕见病离你我并不遥远,只要有生命的传承就有罕见病发生的可能。 80% are caused by genetic defects, which means that rare diseases are not far away from you and me. As long as there is a legacy of life, rare diseases may occur.

19 世纪 80 年代开始,在美国、欧盟、澳大利亚、日本、韩国等国家和地区都制定了罕见病相关法律政策。 Since the 1880s , laws and policies related to rare diseases have been formulated in the United States, the European Union, Australia, Japan, South Korea and other countries and regions. 2000 年颁布了《罕见病防治及药物法》对罕见病药物和相关治疗费用实行全额报销。 The Taiwan Province of China also promulgated the "Rare Diseases Prevention and Drugs Act" in 2000 to implement full reimbursement for medicines and related treatments for rare diseases. 1 4 日,中华人民共和国国家卫生和计划生育委员会官网发布消息称:为加强罕见病管理,促进罕见病规范化诊疗,保障罕见病用药基本需求,维护罕见病患者的健康权益,国家卫生计生委组建了国家卫生计生委罕见病诊疗与保障专家委员会。 On January 4 , 2016 , the official website of the National Health and Family Planning Commission of the People's Republic of China announced that in order to strengthen the management of rare diseases, promote the standardized diagnosis and treatment of rare diseases, protect the basic needs of medication for rare diseases, and safeguard the health rights of patients with rare diseases, the National Health The Family Planning Commission has set up an expert committee for the diagnosis and treatment of rare diseases of the National Health and Family Planning Commission.

、国际罕见病日 3. International Rare Disease Day

月只有 28 天,四年才出现一个 2 29 ,作为日历上最为罕见的日子 2 29 成为了 国际罕见病日 There are only 28 days in February, and February 29th appears in four years . As the rarest day on the calendar, February 29th has become the " International Rare Disease Day " .

2008 年起,由欧洲罕见病组织确定 2 29 日为国际罕见病日,以这个四年一次的日子意寓罕见病之 罕见 ,国际罕见病日旨在促进社会公众和政府对罕见病及罕见病群体面临问题的关注,呼吁各方积极行动,为战胜罕见疾病这一全人类共同面临的公共健康问题而奋斗。 Since 2008 , the European Rare Diseases Organization has confirmed that February 29th is the International Rare Disease Day. This four-year period means the " rare " of rare diseases. The International Rare Disease Day aims to promote the public and the government on rare diseases. Concerns about the problems faced by the disease and rare disease groups, and call on all parties to take active action to fight against the rare disease, a public health problem common to all humankind. 40 多个国家和地区在每年罕见病日期间举办各种形式的活动。 At present, more than 40 countries and regions hold various forms of activities during the annual rare disease day.

、中国罕见病日宣传标志 4 , China rare disease day propaganda signs

10 万株苜蓿草中,才会有一株四片叶子的变种, 四叶草 也就被赋予幸运的含义,因此成为罕见病的标志。 Generally, alfalfa has only three leaves. Among 100,000 alfalfas, there will be a four-leaf variant. The " four-leaf clover " is given the meaning of luck, so it has become a sign of rare diseases. 四叶草 也寄予罕见病患者充满真爱、健康、希望以及幸福的四重寓意, 四叶草 也就成为中国罕见病日宣传的标志。 At the same time, the four-leaf clover ” is also a symbol of the fourfold meanings of true love, health, hope and happiness for patients with rare diseases. The four-leaf clover has become the symbol of China ’s rare disease day promotion.

、罕见病就在你我身边 5. Rare diseases are with you and me

1/15000-1/10000 ,而我们淄博市的发病率约为 1/6400 Taking phenylketonuria as an example, the incidence rate in China is 1 / 15000-1 / 10000 , while the incidence rate in our Zibo city is about 1/6400 . 2000 5 月开始,我市逐步在全市的新生儿范围内开展了新生儿疾病筛查, 15 年来有 66 万余名新生儿享受了这一权益,确诊有 103 例苯丙酮尿症患儿。 Since May 2000, the city has gradually carried out neonatal disease screening in the city's newborns. Over 15 years, more than 660,000 newborns have enjoyed this right, and 103 cases of phenylketonuria have been diagnosed . . 2015 年,我市在 4.7 万名新生儿中发现的罕见病就有苯丙酮尿症 3 例、甲基丙二酸血症 7 例、枫糖尿症 1 例、酪氨酸症 1 例;市妇保院还为 3 例脊髓性肌萎缩家庭进行了产前诊断,有效地避免了罕见病的发生。 In 2015 alone, the rare diseases found in 47,000 newborns in our city were phenylketonuria in 3 cases, methylmalonic acidemia in 7 cases, maple syrup in 1 case, and tyrosine in 1 case. The maternity care hospital also conducted prenatal diagnosis for 3 cases of spinal muscular atrophy families, which effectively prevented the occurrence of rare diseases. 30 种遗传代谢病筛查,都是避免罕见病发生的有效手段。 With the continuous advancement and development of medicine, the prenatal screening and diagnosis and screening of 30 genetic and metabolic diseases for newborn diseases are all effective means to avoid the occurrence of rare diseases. 90% 的患儿发育达到正常或基本正常 , 大大降低了残疾和死亡的发生。 90% of children diagnosed with neonatal disease screening were guided to normal or almost normal development through intervention , which greatly reduced the incidence of disability and death. 年我院将开展在 我国最为常见的14种单基因遗传病携带者基因检测,为更多的表型正常的夫妇及14种遗传病家族史或生育史的夫妇提供“精准医疗”。 In 2016 , our hospital will carry out the genetic testing of the most common carriers of 14 single-gene genetic diseases in China, providing "precision medicine" for more couples with normal phenotypes and couples with family or reproductive history of 14 genetic diseases. (Genetic Disease Laboratory   Xu Jia)

 

Attached:

The 14 most common single-gene genetic diseases: A thalassemia; B. hereditary non-syndromic deafness; C. spinal muscular atrophy; D. phenylketonuria; E. congenital adrenal hyperplasia; F. Polycystic kidney disease; G. hepatolenticular degeneration; H. Pompeii disease; I. Galactosemia; J. Gaucher disease; K. Huntington's disease; L. hemophilia; M. Duchenne muscular dystrophy N. Fabry's disease.


瓷娃娃、睡美人、月亮孩子,你以为的童话世界却是病一场——写在2月29日“世界罕见病日” Previous post: Porcelain dolls, sleeping beauties, moon children, the fairy tale world you thought was a disease-written on February 29th "World Rare Disease Day"
淄博市妇幼保健院召开提案工作落实会议 Next: Zibo Maternal and Child Health Hospital held a proposal implementation meeting

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