新生儿如患上一种名为苯丙酮尿症的罕见疾病时，正常的饮食将变成“毒药”，只能吃低苯丙氨酸含量的特殊食物，否则会智残，他们一生注定每年要花费高达上万元的特食费或几万元的治疗费。

Neonatal such as suffering from a disease called phenylketonuria rare disease,Normal diet will become"poison",Can only eat low phenylalanine content of the special food,Otherwise you will retarded,Their lives a year to spend up to tens of thousands of yuan's food fee or tens of thousands of yuan treatment.

　　昨日，记者从省卫生厅和省第一人民医院了解到，云南每年有50名“不食人间烟火”的苯丙酮尿症患儿出生。对此，省一院遗传诊断中心主任朱宝生教授呼吁，希望家长主动为新生儿做疾病筛查。对从今年6月至2014年7月出生、通过新生儿疾病筛查发现的苯丙酮尿症患儿，将给予免费特殊奶粉补助。

yesterday,Reporters from the province health department and provincial people's hospital of the first to know,Yunnan every year 50"Otherworldly"The propiophenone enuresis children was born.this,Save a court genetic diagnosis center director professor ZhuBaoSheng calls for,Hope that parents do for neonatal screening active disease.From June to July 2014 was born/Through the newborn screening disease found propiophenone enuresis children,Will give free special milk powder subsidies.

　　关键词：病例 keywords:cases

　　特食娃娃吃口米饭就中毒 Special food doll ChiKou rice is poisoning

　　吃一口米饭就中毒，须终生吃特制米面，他们从出生开始，一辈子不能吃鸡、鸭、鱼、肉甚至大家平常吃的米、面，一旦吃下，就会有生命危险。这样一群“不食人间烟火”的孩子，患有同一种罕见的遗传病——苯丙酮尿症，这种可怕的智力障碍遗传病，须终生治疗。

A bite of rice is poisoning,Life must eat special rice noodles,They were born,Life can't eat chicken/duck/fish/Meat and even we usually eat rice/surface,Once eat,Will have life risk.Such a group of"Otherworldly"children,With the same kind of rare genetic disorder - phenylketonuria disorder,This terrible intelligence obstacle genetic disease,Must be lifelong treatment.

　　这些可怜的患儿出生时没有任何异常。皮肤色浅、头发细黄，看上去就像一个漂亮的天使，不少家长会认为孩子只是长得像白种娃娃，却不知道孩子可能已被苯丙酮尿症这个隐性“杀手”缠上。

These poor children were born without any exception.Skin color is light/Hair fine yellow,Looks like a beautiful angel,Many parents think children just look like white doll,But he didn't know the child may have been phenylketonuria disorder the recessive"killer"Tangle on.

　　15岁的小昆(化名)是筛查确诊的孩子。一直以来，小昆的父母坚持不懈治疗，控制饮食，小昆只吃特制的米、面、奶粉，如今小昆已经上初中，成绩与其他孩子没啥两样。

15 years old Queensland small(alias)Screening is diagnosed children.Has been,Small Queensland parents unremitting treatment,Control diet,Small Queensland eat only special meters/surface/Milk powder,Now the little Queensland has top junior high school,Achievements and other children do not have what two.

　　不过，并非所有的患儿都能像小昆这样幸运，特制的奶、米、面等食品价格昂贵，非一般家庭可以终生承担。为此，经济条件不好的家庭，不得不放弃治疗。由于治疗昂贵不堪重负，有很多夫妻，也因此相互埋怨，以离婚收场。

but,Not all the children can be like small Queensland so lucky,Special milk/meters/Face food price expensive,The average household can lifelong bear.therefore,Economic condition not good family,Have to give up treatment.Because treatment expensive unbearable heavy burden,There are a lot of husband and wife,Also therefore mutual blame,To divorce.

　　关键词：治疗 keywords:treatment

　　治疗费每年高达数万元 Every year tens of thousands of yuan up treatment

　　其实，这种病不是父母哪一方的责任，孩子的父母都是正常的，但如果双方体内都带有这种致病基因，结合后就有25%的可能性生出这种患儿。

In fact,The disease is not the responsibility of the parents which side,The child's parents are normal,But if the parties all body with this pathogenic gene,Combined with 25% after the possibility of the birth of children.

　　作为一种先天性代谢疾病，苯丙酮尿症可引起中枢神经系统损伤，卫生部《新生儿疾病筛查管理办法》将其列为对新生儿筛查的疾病之一，低苯丙氨酸饮食疗法是治疗该病的唯一有效途径。

As a kind of inborn errors of metabolism disease,Phenylketonuria can cause disease of the central nervous system damage,The ministry of health[Neonatal screening disease management measures]As its to the newborn screening one of the disease,Low phenylalanine diet therapy is the only effective way to treat the disease.

　　苯丙酮尿症患儿一般在3个月左右表现出明显症状。这种病的患者由于缺乏苯丙氨酸羟化酶，无法食用高蛋白的食物，像鱼、虾、肉都不能吃，他们的食物都是经过特殊处理的，和正常人不一样。采用食疗法通过定量、定食来控制病情，是目前唯一的治疗方法。

Propiophenone enuresis children generally in 3 months showed obvious symptoms.The disease of the patients due to lack of phenylalanine hydroxylase,Can't eat high protein food,Like a fish/shrimp/Meat can eat,Their food is through special processing,And normal person is not the same.Using food therapy through the quantitative/Set food to control the disease,Is currently the only treatment.

　　记者在采访中了解到，每个患儿一年要花费高达上万元的特食费或数万元的治疗费，对于一个普通家庭来说，这种病需要终生治疗，花费巨大，这并非一般家庭可以承担的。

Reporter in the interview to understand,Children each year to spend up to tens of thousands of yuan's food fee or tens of thousands of yuan treatment,On an ordinary families,This illness demands lifelong treatment,Spend huge,This is not the general family can bear.

　　关键词：补助 keywords:subsidies

　　中西部贫困患儿获补助 The children of poverty by subsidies

　　9月14日，“苯丙酮尿症患儿特殊奶粉补助项目”中期总结会在北京召开。会议由全国妇幼卫生监测办公室主办，卫生部妇幼保健与社区卫生司、美赞臣营养品有限公司，以及中西部地区21个省市卫生厅妇社处相关负责人、各新生儿疾病筛查中心代表出席了会议。

On September fourteenth,"Propiophenone enuresis children special milk powder subsidy project"In the middle of the meeting was held in Beijing.The meeting by the maternal and child health monitoring of the office,The ministry of health maternity and child care and community health department/MeiZanChen nourishment co., LTD,And parts of the Midwest 21 provinces and cities in the relevant person in charge of women health club/The neonatal illness screening center representative attended the meeting.

　　据了解，这是国内首个关注苯丙酮尿症患儿的项目，此举拉开了政府、医疗单位及社会力量共同救助患儿的序幕。目前，已经为中西部地区募集的509名贫困患儿免费提供了美赞臣无苯丙氨酸配方奶粉补助，建立了规范的治疗随访和管理体系。

It is understood,It was the country's first concern phenylketonuria disorder in children with project,The move to draw attention to the government/Medical units and social forces joint salvage the patient's prelude.At present,As the central and western region has been raising of 509 poor children free provides MeiZanChen no phenylalanine formula subsidies,Has established the standard treatment follow-up and management system.

　　关键词：呼吁 keywords:Called for

　　不要拒绝新生儿疾病筛查 Don't refuse to neonatal illness screening

　　记者从省卫生厅了解到，在卫生部支持下，“苯丙酮尿症患儿特殊奶粉补助项目”已于近日正式启动。云南、河北、山东、河南、新疆5个省区被确认为补助对象，对从今年6月至2014年7月出生、通过新生儿疾病筛查发现的苯丙酮尿症患儿，将给予免费特殊奶粉补助。

Reporters from the provincial health department to know,In support of the ministry of public health,"Propiophenone enuresis children special milk powder subsidy project"Already in the recent official start.yunnan/hebei/shandong/henan/Xinjiang five provinces is confirmed for subsidy object,From June to July 2014 was born/Through the newborn screening disease found propiophenone enuresis children,Will give free special milk powder subsidies.

　　“苯丙酮尿症是一种罕见疾病，一万个新生儿中约有一例。”省卫生厅妇社处相关负责人介绍，云南省每年约有50个这样的孩子出生。如果在出生时没有发现，到孩子6个月时就不能再进行治疗了。

"Phenylketonuria syndrome is a rare disease,Ten thousand babies born about a case."Provincial health department women club place relevant controller introduces,Yunnan province each year about 50 such children was born.If at birth, not found,To children 6 months can't again the treatment.

　　对此，云南省新生儿疾病筛查中心主要创始人朱宝生说，新生儿疾病筛查将使患儿的一生发生改变，目前已经有苯丙酮尿症患儿通过治疗上了大学。朱宝生说，许多家长认为双方身体都没有问题，孩子也就不会有问题，但经验往往欺骗了他们，只有通过实验手段才能筛查出来，希望家长正确理解，不要再拒绝新生儿疾病筛查。

this,Newborn screening center is a major disease in yunnan province, the founder of the ZhuBaoSheng said,Neonatal illness screening will make the patient's life changes,At present there are propiophenone enuresis children through the treatment to the university.ZhuBaoSheng said,Many parents think the body is no problem,The children won't have a problem,But experience often cheated them,It is only through experimental method to screening out,Hope that parents correct understanding,Don't refuse to neonatal illness screening.

　　朱宝生介绍，目前，云南已经有省卫生厅批准的7个新生儿疾病筛查中心，分别在省第一人民医院、昆医附一院、昆明总医院、省妇幼保健院、昆明市儿童医院、昆明市妇幼保健院、玉溪市妇幼保健院。

ZhuBaoSheng introduced,At present,Yunnan has been approved by the provincial department of seven neonatal illness screening center,Respectively in province first people's hospital/The attached a hospital medical/Kunming general hospital/Maternal and children health care centers of provincial/Kunming children's hospital/Kunming maternal and child care service centre/Yuxi maternal and child care service centre.

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　　相关新闻 Related news

　　全国专家聚昆研究出生缺陷 The national experts gather research the birth defects

　　9月16日，来自全国的医学专家聚集昆明，共同参加“早孕期产前筛查与出生缺陷预防研讨会。”专家表示，早孕期产前筛查和新生儿疾病筛查可作为全世界公认的出生缺陷防治第三的重要级预防措施，能及时发现出生缺陷，有效提高人口素质。

September 16,,Medical experts from all over the country gathered kunming,Attend jointly"Early pregnancy prenatal screening and birth defects prevention seminar."Experts say,Early pregnancy prenatal screening and neonatal illness screening can be used as the world recognized birth defects of the prevention and control of the third level important prevention measures,Can promptly found that birth defects,Effectively improve the population quality.

　　据了解，中国是世界上出生缺陷的高发国家，每年新增出生缺陷数约90万例，而云南出生缺陷的发现率也呈逐年上升趋势。2011年云南省监测的出生缺陷率为188.13/万，与2000年相比上升了88.31个万分点。目前，我省正在建立并逐步完善免费婚检、孕前和孕期检查，以及开展出生缺陷监测三道控制出生缺陷的屏障。(王劲松）

It is understood,China is the world's birth defects of the high-risk countries,New Year birth defects number about 900000 cases,And yunnan birth defects found rate is increasing year by year.2011 yunnan monitoring birth defect rate was 188.13 per,Compared with 2000 rose 88.31 very point.At present,Our province is set up and gradually perfect free check-ups/Pregnant and pregnancy check,And carry out birth defects monitoring three ways to control the barrier of birth defects.(Wang jinsong)