中新社福州7月24日电 (吴志 张文明)在福州，3岁小朋友欢欢(化名)，生就是“无痛娃”，常咬破舌尖、手指，甚至咬坚硬物体造成牙齿脱落，手脚多处溃疡都无疼痛感。

Arriving on July 24, fuzhou (WuZhi ZhangWenMing)In fuzhou，3 years old children huanhuan(aliases)，born“Eva painless”，Often bite open the tip of the tongue、fingers，Or even bite hard object cause tooth loss，In no ulcer and pain。

　　南京军区福州总医院专家24日向记者透露，经诊断，小欢欢患的是先天性无痛无汗症。小欢欢属于一类因痛觉丧失及无法正常排汗，而导致无意自残和反复发热的罕见人群。目前，临床上尚无有效疗法，只能采取保护措施，防止自残和外伤，高温时给予物理降温。

Fuzhou general hospital of nanjing military experts 24 has revealed，The diagnosis，Small huanhuan is suffering from congenital painless without khan disease。Small huanhuan belongs to a class for pain and loss not normal perspiration，And lead to not committing the rare and recurrent fever crowd。At present，Clinically, there is no effective therapy，Can only take protective measures，Prevent committing and trauma，High temperature when giving the physical cooling。

　　据欢欢父母介绍，该患儿1岁时因不明原因高热入院，检查发现该患儿痛觉不敏感，对各种注射均无反应，经常抓破皮肤和咬破手指。福建省内某医院诊断为“无汗性外胚叶发育不良”。

According to huanhuan parents is introduced，The child at the age of 1 from the unidentified high fever in hospital，Inspection found that the children is not sensitive to pain，To all sorts of injection all no reaction，Often catch broken skin and bite your finger。Fujian province for a hospital diagnosis“No sweat sex outside contain bad embryo”。

　　两年多来，家人四处求医，欢欢仍不见好转。如今，欢欢已3岁，却只会发出“爸爸、妈妈”音，经常反复发烧，常咬破舌尖、手指，甚至咬坚硬物体造成牙齿脱落、残缺不全，手脚多处溃疡，指甲残缺。因担心再生下不健康的孩子，欢欢父母也一直不敢再生育。

For more than two years，Family doctor around，Huanhuan is still did not get better。now，Huanhuan already three years old，But will only send“dad、mother”sound，Often repeated fever，Often bite open the tip of the tongue、fingers，Or even bite hard object cause tooth loss、incomplete，More canker arms and legs，Nails incomplete。Fears of the health of children of not renewable，Huanhuan parents have been afraid to birth。

　　福州总医院实验科主任医师兰风华在详细了解患儿病史及诊疗过程后，凭借多年遗传病研究经验认为，该患儿并非“无汗性外胚叶发育不良”，而是一种罕见的遗传病——先天性无痛无汗症。

Fuzhou general hospital of director of division of doctors in the LanFengHua detailed understanding of history and diagnosis and treatment of children of the process，With many years experience and research think genetic disease，The child is not“No sweat sex outside contain bad embryo”，But a rare genetic-congenital painless without khan disease。

　　先天性无痛无汗症是一种由酪氨酸受体激酶1基因突变所致的常染色体隐性遗传病。该病典型表现为痛觉丧失、无汗以及智力低下，由于痛觉丧失，患儿有自残行为及身体损伤，又因汗腺发育不良、体温调节失调导致反复发热。

Congenital painless without khan is a kind of disease by tyrosine kinase 1 receptor caused by gene mutations autosomal recessive genetic disease。The disease model performance for pain lost、No sweat, and intelligence is low，Due to the loss of pain，The fetus has stabbed himself and physical damage，And because your sweat glands stunted growth、Body temperature adjustment disorder lead to repeated fever。

　　随后，南京军区福州总医院利用分子诊断技术，找到了小欢欢家系基因突变位点，证实了兰风华的判断，准确诊断为“先天性无痛无汗症”。

then，Fuzhou general hospital of nanjing military region by using molecular diagnostic technique，Find small huanhuan pedigree gene mutations，Confirmed LanFengHua judgment，Accurate diagnosis of“Congenital painless without khan disease”。

　　兰风华说，产前分子诊断或胚胎植入前诊断是避免家族中再次出现此类患儿的关键，“虽然再生育同样患儿的机率达25%，但是通过产前分子诊断可以生育健康孩子。”(完)

LanFengHua said，Molecular diagnosis or prenatal diagnosis is to avoid before embryos in the family of the key to such children appear again，“Although to bear the risk of up to 25% of children of the same，But through the prenatal molecular diagnosis can bear healthy children。”(finish)