记者从市一医院风湿免疫科获悉，目前，株洲市已出现硬皮病(系统性硬化症)、干燥综合症、混合型结缔组织病等罕见疾病患者。专家表示，罕见疾病发病率低，死亡率高，目前仍无过多临床经验和可治疗药物。

Reporters from the city that li rheumatism lead of a hospital,At present,Zhuzhou have scleroderma(Systemic sclerosis)/Drying syndrome/Mixed connective tissue disease such as patients with rare diseases.Experts say,Rare disease incidence is low,Mortality rate is high,There is still no too much clinical experience and therapeutic drugs.

【个案】 [case]

皮肤紧绷，变成了“面具脸” The skin tight,Turned out to be"Face mask"

　　琴姐(化名)今年35岁，来自攸县，她是2月16日住进一医院的。病床上的琴姐，五官清秀，脸部有些肿。如果不是得病，应该非常漂亮。

Jean elder sister(Not his real name)35 years old this year,From the remote,She was admitted to a hospital on February 16.On hospital bed of elder sister,Facial comely,A swollen face.If not get sick,Should be very beautiful.

　　她告诉记者，近一年来，她的皮肤变得绷紧，褶子也少了。“原本以为是护肤品起了作用，让皮肤变好，谁知道是得了一种罕见病”。琴姐介绍，3个月前，她出现肢端发白发紫；1个月前，关节出现肿痛，双手及前臂肿胀变硬。

She told reporters,For nearly a year,Her skin became taut,A cleft is less."Thought is a skin care products play a role,Make the skin better,Who knows is a rare disease".Jean elder sister introduction,Three months ago,She appeared acra pale purple;A month ago,Joint swelling pain,Swelling of the hands and forearms to harden.

　　2月16日，琴姐来到市一医院就诊，诊断结果显示，琴姐得的是系统性硬化症，俗称硬皮病，属于罕见病。

On February 16,,The elder sister came to the city a hospital,Diagnostic results show that,The elder sister's systemic sclerosis,Commonly known as scleroderma,Belong to a rare disease.

　　医生说，值得庆幸的是，因发现还算及时，琴姐的病得到了有效控制。

The doctor said,It would be nice,His discovery is timely,Jean elder sister of the disease has been effectively controlled.

【危害】 [harm]

皮肤会硬得刀子都划不开，内脏功能会衰竭 Skin will hard knife row does not open at all,Internal organs function failure

　　株洲市一医院风湿免疫科主任李敬扬说，硬皮病是罕见病的一种，发病率很低。每100万人中，每年约有18-20人患病。女性患病的概率约为男性的3到4倍，以20至40岁最多。

Zhuzhou city said Li Jingyang director li rheumatism lead of a hospital,Scleroderma is a kind of rare diseases,Incidence is very low.In every 1 million people,Each year about 18 to 20 people.Women the probability of illness, about three to four times as much as men,Up to 20 to 40 years old.

　　据悉，得了这种病，随着病情的加重，全身皮肤会变僵硬，甚至连刀子都划不开，内脏功能也会衰竭，治疗不及时会危及生命。

It is understood,Got the disease,With the deterioration of the illness,Whole body skin can become stiff,Even the knife does not open,Visceral function will also be failure,Treatment than will be life-threatening.

　　目前，我市已出现硬皮病(系统性硬化症)、干燥综合症、混合型结缔组织病等罕见疾病，以硬皮病为例，每年，市一医院能接到十几例。

At present,Hefei has appeared scleroderma(Systemic sclerosis)/Drying syndrome/Mixed connective tissue disease such as rare diseases,Scleroderma, for example,Every year,City can received dozens of cases of a hospital.

【盲点】 [Blind spots]

罕见病患者普遍“缺医少药” 维持健康的生活习惯很重要 Rare disease commonly"underserved" Maintain a healthy life habits is very important

　　李敬扬表示，罕见病的种类很多，而我国对罕见病医学的研究和药物开发还存在“空白”。

Li Jingyang said,There are many kinds of rare diseases,And our country of rare diseases medical research and drug development still exist"blank".

　　据悉，我国暂时没有独立的罕见病科室，所以这部分病人在看病时，缺乏经验的医生可能当成其他病误诊，耽误治疗。“在我国，罕见病还没纳入医保。”李敬扬说。

It is understood,Temporarily no independent department of rare diseases in China,So this part of the patient when the doctor,Inexperienced physicians may be misdiagnosed as other disease,Waste treatment."In our country,Rare diseases haven't incorporated into health care."Li Jingyang said.

　　在谈到罕见病如何预防时，李敬扬说，当家族有人出现遗传性罕见病，其他家属应该引起重视。

When it comes to rare disease how to prevent,Li Jingyang said,When the family appeared some rare inherited disease,We should pay important attention to other family members.

　　同时，她也表示，吸烟、喝酒、染发等是罕见病的诱发因素，维持健康的生活习惯很重要。(株洲晚报 杨凌凌 朱捷建 王家明)

At the same time,She also said that,smoking/Drinking alcohol/Hair color is a rare disease such as inducing factors,Maintain a healthy life habits is very important.(Zhuzhou evening Yang Lingling Wang Guming Zhu Jie built)