瓷娃娃关怀协会的疾病简介

成骨不全症(osteogenesis imperfecta, OI)是以骨脆弱和骨畸形为临床特征的常染色体显性遗传缺陷的结缔组织病，又称脆骨症，具有遗传性，民间形象地称呼该人群为瓷娃娃。全人类各种族内男女均有发病，总发病率约为1/10，000—1/15，000，全球估计***有500万名OI患者，中国没有任何研究数据，按照以上的比例，估计应该有10万人左右。疾病的表现通常为巩膜通常呈现蓝色、紫色或灰色；严重者在母亲子宫内即并发多处骨折；进行性骨变形，长骨短且弯曲，造成身材极度矮小；脊柱倾向弯曲，牙齿硬而易脆等症状。

在近几年中国各地媒体的报道中频繁出现此病人的相关报道，并引起很多人的关注，但是社会的关注并没有改变该群体的生活状况。政府和民间机构都还没有对这一个人群提供基本的援助。大部分成骨不全症患者的家庭生活极其困苦，患者医疗费用负担沉重，政府缺乏对该疾病的政策支持，社会救助欠缺，药品依赖进口以及国产药品副作用大，教育歧视和排斥现象非常严重，患者在治疗、教育、就业和关怀方面的合法权益难以得到保障。

Osteogenesis Imperfecta (OI), also known as Brittle Bone Disease or Glass Dolls, is a genetic

connective tissue disease, whose clinical characteristics are fragile bones and bone deformities.

The total number of the OI patients comprises 1/10000 - 1/15000 of the global population.

There are 5 million OI patients in the world.

Currently, China has no data about the number of OI people in the country. Based on the above

proportion, it is estimated that there are about 100,000 OI patients now in China.

The symptoms of OI usually include: multiple fractures while in the mother's womb; the color

of sclera (whites of the eyes) shows blue, purple or grey; bone deformation; spinal curvature;

brittle teeth; and short stature due to short and bend bones.

In recent years, the Chinese media have frequently reported OI and OI patients in order to attract

more social attention.

However, the attention does not change the living condition of the patients.

Currently, very limited social assistance has been given to the population both by government

and civil society.

In China, most families of OI patients become extremely poor due to the extremely high medical

expenses.

Also because of the lack of policy support, very limited social assistance, the reliance on imported

drugs, the side effects caused by domestic medicine and common violations on their education and

employment rights, up to now the equal rights for OI patients in the fields of health care,

education, employment and social care have not been fully guaranteed.