尿液带有鼠尿味 海南“鼠尿儿”获特殊奶粉补助 Urine with rat urine taste hainan"Rat urine son"The special milk powder subsidies

　　国内首个“苯丙酮尿症”患儿救治项目惠及海南，我省发病率是1.1万分之一，截止目前已确诊15例

Domestic first"phenylketonuria disease"Treatment of children with the project benefit hainan,Our province incidence is 11000,So far has 15 cases diagnosed

我省“鼠尿儿”获特殊奶粉补助 Our province"Rat urine son"The special milk powder subsidies

　　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人娃娃，却不知道孩子可能是罕见的“苯丙酮尿症”(PKU)患儿，也就是俗称的“鼠尿儿”。对于“鼠尿儿”来说，正常人所吃的鸡、鸭、肉等佳肴都可能伤害他们大脑，他们只能吃特殊配置的的无(低)苯丙氨酸奶粉等。可特殊奶粉费用昂贵，不少“鼠尿儿”家庭因无力承担，患儿智力低下，成为智障，甚至是死亡。

Skin color is light/Hair fine yellow,Looks like a beautiful angel,Many parents think children just look like white doll,Did not know the child may be rare"phenylketonuria disease"(PKU)children,Also is common"Rat urine son".for"Rat urine son"for,Normal person eat chicken/duck/Meat delicacies may damage the brain,They can only eat special configuration of the no(low)phenylalanine milk powder, etc.Special milk powder can be expensive,many"Rat urine son"The family had incurred,With low intelligence,Become mentally disabled,Even death.

特殊奶粉每月要花两千元 Special milk powder to spend two thousand yuan a month

　　“小孩出生一个多月做筛查时就发现患上苯丙酮尿症了，当时我们都惊呆了！”三亚的吴女士说，她的儿子聪聪(化名)今年3岁半，出生时就接受了政府免费的PKU筛查。等过了一个多月，当医院通知他们说聪聪是罕见的PKU患儿，也就是俗称的“鼠尿儿”时，全家人都不敢相信这是真的……后来，她带着儿子到广州复查确诊了之后，才勇敢地面对现实。

"The child was born more than a month to do screening when he found suffering from phenylketonuria the disease,We were all shocked!"Sanya ms wu said,Her son murry(alias)Three and half years old this year,Born accept the government free PKU screening.Wait until after more than a month,When the hospital notice they say murry is rare PKU children,Also is common"Rat urine son"when,The whole family can't believe it...later,She took his son to guangzhou review after the diagnosis,To bravely face the reality.

　　因为发现早，聪聪不需要服药，而是加以饮食控制。但与其他的婴幼儿不一样，正常人所吃的母乳、米面、鸡、鸭、肉等食品，聪聪都不能吃，他必须吃特殊配置的的无(低)苯丙氨酸奶粉、面粉、土豆(白薯)、部分果蔬等。而特殊配置的奶粉要400、500元一罐，有时一个月就要吃几罐。

Because found early,Murry don't need to take medicine,But to diet control.But with other infant is not the same,Normal person eat breast milk/rice/chicken/duck/Meat food such as,Murry cannot eat,He must eat special configuration of the no(low)phenylalanine milk powder/flour/potatoes(Sweet potatoes)/Part such as fruit and vegetable.And the special configuration of milk powder to 400/500 yuan a tank,Sometimes a month will eat a few tank.

　　这几年，聪聪的妈妈王女士上街买菜或到超市购物，已经习惯带上一杆秤和一本笔记本，因为聪聪吃什么，不吃什么或是吃多少都是严格控制的，否则一旦超标，就可能对大脑造成影响。“现在给孩子买东西都习惯看成分表了。”王女士说，为了不让孩子苯丙酮摄入多，只要有禁忌的成分，她都不能买。让吴女士更痛苦的是，孩子的饮食是要终身控制的，一碗普通的米饭就能让摄入量超标。

Over the past few years,Murry mother wang street to buy vegetables or go to the supermarket shopping,Has been used to take a steelyard and a notebook,Because murry eat,Not what to eat or how much to eat is strictly control,Otherwise once overweight,May affect on the brain."Now give children shopping is used as the table."Ms. Wang said,In order not to let the child propiophenone intake more,As long as there is taboo composition,She can't buy.Let ms wu is more painful,The child's diet is to lifelong control,A bowl of ordinary rice can let intake exceeds bid.

　　由于要维持聪聪的特殊奶粉和正常饮食，每月至少花费2000元左右。比如聪聪之前喝的蛋白质粉一罐就要670元，每月基本要消费两罐，而他们夫妇都是普通打工一族，仅靠两人每月4000元的工资支撑是很难的。吴女士跟医生交流得知，我省的PKU患儿可以免费领取特殊奶粉，于是就成功申请了。

Due to maintain murry special milk powder and normal diet,Spend at least 2000 yuan a month.Such as murry drink before the protein powder a tank will be 670 yuan,Basic monthly to consumption two tank,And the couple are ordinary wage earners,Only on two people 4000 yuan a month wages support is very difficult.Ms wu communication with doctors know that,The children in our province PKU receive free special milk powder,And the successful application.

　　因为发现早，控制得好，聪聪的智力算正常，但尿尿后还是有鼠尿味。王女士感慨地说：“特殊奶粉的帮助对聪聪这种特殊人群来说是极大的帮助，很多地方的患者因为负担不起高昂的的费用放弃了孩子，眼睁睁地看着一个正常的孩子从正常到失常。”

Because found early,Control well,Murry intelligence is normal,But after pee or have rat urine taste.Ms. Wang regrets ground say:"Special milk powder help to murry this kind of special crowd is a great help,In many places the patients because can't afford the high cost to give up the child,Helplessly looking at a normal child from normal to the disorder."

当年确诊海南患儿可申请补助 The children in hainan can apply for subsidy

　　海南省新生儿筛查中心主任王洁表示，我省的新生儿筛查中心是2007年启用的，截止目前已筛查了35.4万新生儿，筛查出的PKU患儿是11例，发病率约是1.1万分之一，加上4例省外确诊流动到我省的患儿，我省共确诊的患儿是15例，还有10例是处于观察当中，不需要治疗的。目前我省只有6人得到了政府的救助，2011年起，新生儿PKU、蚕豆病和听力障碍筛查由政府埋单。

Hainan neonatal screening center director wang jie said,Our province neonatal screening center is 2007 years of opening,So far already screened 354000 newborns,Screening out of the PKU children is 11 cases,Incidence of a disease is about 11000,Add 4 cases were diagnosed in our province outside flow to children,Children were diagnosed in our province is 15 cases,There are 10 cases of observation is in,Don't need treatment.At present our province only 6 people get the government's rescue,Since 2011,Neonatal PKU/Horsebean disease and hearing impairment screening bill by the government.

　　王洁表示，由卫生部、全国妇幼卫生监测办公室与美赞臣公司合作发起的“苯丙酮尿症患儿特殊奶粉补助项目”已覆盖至海南，并免费向农村的PKU患儿提供美赞臣无苯丙氨酸配方粉补助，这也是国内首个PKU患儿救助项目。该项目为期5年，我省有两名患儿免费获得了美赞臣特殊奶粉的补助。此外，海南省卫生厅、慈善总会和省妇幼保健院发起的“益智工程”也救助了两名PKU患儿。

Wang jie said,By the ministry of public health/The maternal and child health monitoring office and MeiZanChen company launched cooperation"Propiophenone enuresis children special milk powder subsidy project"Has covered to hainan,And free to the countryside to provide MeiZanChen PKU children without phenylalanine formula powder subsidies,This is the first domestic PKU children programs.The project for 5 years,Our province have two children free the MeiZanChen special milk powder subsidies.In addition,Hainan province health department/Charity federation and provincial maternal and children health care centers of the launch"Educational engineering"Also salvage two PKU children.

　　那么，获得特殊奶粉补助具体需要什么条件呢？王洁表示，只要是当年确诊的PKU患儿，有农村贫困证明或城市低保证明的海南户籍患儿均可向省新生儿筛查中心申请特殊奶粉补助项目。

so,Obtain the special milk powder subsidies specific what requirement to need?Wang jie said,As long as it is the diagnosed PKU children,A rural poverty certificate or urban residents proof of census register of hainan children are to the provincial neonatal screening center to apply for special milk powder subsidy project.

PKU属常见染色体隐性遗传病 PKU belong to common chromosome recessive genetic disease

　　“PKU是较常见的氨基酸代谢障碍病之一，但‘鼠尿儿’并非不可救药。”王洁指出，PKU属常见染色体隐性遗传病，可分为典型苯丙酮尿症和非典型苯丙酮尿症。典型病人肝内苯丙氨酸羟化酶的缺乏以致苯丙氨酸不能转变为酪氨酸，苯丙氨酸在体内蓄积起来，从而影响了大脑及神经系统的发育，严重影响智力发育，最终导致智力严重低下。但是，它又是三千多种遗传代谢病中极少数可防治的一种。

"PKU is a common amino acid metabolism disorder is one of the disease,but‘Rat urine son’Not hopeless."Wang jie pointed out that,PKU belong to common chromosome recessive genetic disease,Can be divided into typical phenylketonuria disorder and atypical phenylketonuria disorder.Typical patient intrahepatic phenylalanine hydroxylase lack of that phenylalanine can't be transformed into tyrosine,phenylalanine accumulation in the body up,Which affect the brain and nervous system development,The serious influence intelligence development,Eventually lead to low intelligence serious.but,It is more than three thousand kinds of genetic metabolic disease in the prevention and control of a few can.

患儿尿液和汗液带有“鼠尿”味 Children with urine and sweat"Rat urine"taste

　　PKU患儿出生时没有任何异常，PKU的临床表现直接或间接与体内苯丙氨酸蓄积的浓度有关。患儿可能会在3个月至6个月后出现比较频繁的呕吐，皮肤出现湿疹(奶癣)，头发逐渐转黄，皮肤和虹膜色浅，尿液和汗有一种特殊的臭味——像老鼠尿味。同时患儿智力发育落后的症状也开始有所体现：如不会抬头，无法集中注意力等；6个月后的患儿会有“软”的表现，例如不会爬，扶着站立时会突然“软趴”下去，近半数的患儿还并有癫痫症发作。

PKU children were born without any exception,The clinical manifestations of PKU directly or indirectly with the body phenylalanine accumulation concentration relevant.Children may be in the three months to six months after appearance is quite frequent vomiting,Skin appear eczema(Milk tinea),Hair gradually turn yellow,The skin and iris color is light,Urine and sweat are a special kind of smell - like mouse urine taste.At the same time the development of children intelligence behind the symptoms also beginning to reflect:If not looked up,Lack of concentration, etc;After six months of children will have"soft"performance,For example won't climb,To hold the stand when it"Soft grovel"down,Nearly half of the children were and have epilepsy attack.

　　当PKU患儿体内苯丙氨酸蓄积浓度升高时，容易出现烦躁、睡眠不稳，甚至会用头撞墙等硬物，以期减轻头部的痛苦。同时，绝大多数患儿都会有抑郁、多动、孤独症倾向等精神异常行为。

When PKU children body phenylalanine accumulation concentration increased,Prone to be agitated/Sleep instability,Even with hard banging your head against a brick wall, etc,In order to alleviate the pain of the head.At the same time,The vast majority of children will have depression/hyperactivity/Autism orientation spirit abnormal behavior.

　　这些孩子，如得不到及时、持续的治疗，或最终造成中度至极重度的智力低下，成为智障，无法生活自理，甚至可能死亡。

These children,If not promptly/Continuous treatment,Or the final cause moderate extremely severe mental retardation,Become mentally disabled,Cannot independent living,May even death.

3个月之内是最佳治疗时期 Three months is the best period of treatment

　　王洁指出，“鼠尿儿”关键是保护大脑发育尽可能不受损，而治疗时间的节点最讲究。医学研究报告指出，3个月大以前是PKU患儿最佳的治疗时期。患儿在1个月内接受治疗，可不出现智力损害；半岁开始治疗，智商可接近正常；1岁以后开始治疗，智商常在50以下。患儿早期没有典型症状难以引起父母的注意，但进行新生儿疾病筛查可以及时发现，并进行治疗。

Wang jie pointed out that,"Rat urine son"The key is to protect brain development as far as possible not damaged,And treatment time of the most exquisite node.Medical research report says,Three months before the PKU children the best treatment period.Children treated in one month,Don't have mental damage;Half years old start treatment,Intelligence quotient (IQ) can be close to normal;1 years later start treatment,Intelligence quotient (IQ) often under 50.The early children no typical symptoms difficult to cause the attention of the parents,But for neonatal screening disease can be found in time,And treatment.

　　PKU患儿，一般采用无(低)苯丙氨酸饮食治疗，如有癫痫并发症再加以服用相关药物。对于这些患儿来说，正常人所吃的鸡、鸭、肉等佳肴，母乳和普通粮食都可能伤害他们大脑，他们只能吃特殊配置的的无(低)苯丙氨酸奶粉、面粉、土豆(白薯)，部分果蔬等。而且，家长对孩子的饮食品种、数量、血苯丙氨酸(Phe)浓度检验结果要有详细的记录，在复诊时供医生参考。

PKU children,Generally USES no(low)phenylalanine diet therapy,If you have epilepsy complications related to take drugs.For these for children,Normal person eat chicken/duck/Meat delicacies such as,Breast milk and ordinary food may damage the brain,They can only eat special configuration of the no(low)phenylalanine milk powder/flour/potatoes(Sweet potatoes),Part such as fruit and vegetable.and,The parents to the child's diet variety/quantity/Blood phenylalanine(phe)Concentration inspection result to have the detailed record,In return for the doctor reference.

患儿父母再生育一定要产检 Parents of children to have must produce inspection

　　PKU给患儿、家庭带来的影响是终身的，如何更好地预防呢？王洁表示，PKU是隐性遗传病，父母都是携带者，每次生育的孩子是PKU患者的概率为1/4，是携带者的则为1/2。如果已有PKU患儿的家庭要再次生育，一定要进行产前诊断，即在怀孕早期或中期抽取胎儿绒毛或羊水，通过基因诊断，判断胎儿是否患儿，据此作出继续妊娠或终止妊娠的决定。千万别以为自己健康，则认为孩子也是健康的。(南国都市报 记者 陈新)

PKU children to/The impact of family life,How to better prevention?Wang jie said,PKU is recessive genetic disease,Parents are all carriers,Each birth child is the probability of PKU patients for 1/4,Was a carrier is 1/2.If there are children of PKU family to birth again,Must for prenatal diagnosis,That in early pregnancy or middle extraction fetal nap or amniotic fluid,Through the gene diagnosis,Judge whether the fetus children,We made continue to pregnancy or the decision of the termination of pregnancy.Don't think you health,Is that children are healthy.(Southern metropolis daily reporter, Chen xin)