Analysis Of The Screening Results Of Inherited Metabolic Disorders Part Of Area In Hebei Province From 2007 To 2010

Objectives: Through the summarizes and analyses of the inherited metabolic disorders screening results part of area in HeBei Province from 2007 to 2010,the aim of this passage is to evaluate the characteristics of inherited metabolic disease in composition, age, sex and the annual incidence , to understand the characteristics of this kind of disease, deepen the understanding of the clinical and guide clinicians to early diagnosis and early intervention.Methods: the research objects are the children visiting each big hospital in HeBei Province from June 2007 to June 2010. These children′s clinical manifestations are complex, symptoms are serious and a single disease seriously can't explain. Basic clinical manifestations of them can be divided into: slow physical growth,do not corrective acidosis,do not easy explanatory dyspnoea,With or without familial history,With or without mother stillbirth history,unexplained liver big or ascites, jaundice, unexplained low strength, muscle tension and so on. Based on the diagnosis is not clear, hence screening inherited metabolic disease. In strict disinfection conditions,These children are using a dry cleaners slice method to return the peripheral blood .Collection steps include:1 wash your hands and wearing sterile gloves2 massage or hot compress the children′s picks parts,and disinfect the skin with 75% ethanol.3 stay alcohol natural drying, the use of disposable picks with acupuncture inside or outside, full with dry tampon wipe first drop of blood, take the second drop of blood.4 sticking up filter drops of blood, do not touch contact with the skin, make full penetration to the filter blood natural back, at least three blood collected 5 handheld disinfection cotton gently press taking blood parts make it stop bleeding;6 place the filter paper in clean air tablet, in 20-25℃environment will sample lie 3 to 4 hours, make it naturally dry. Avoid direct sunlight, room-temperature naturally air until showing puce, and cataloged.7 filter papers cannot pile up together until dry, also cannot stack to the surface contact spots to other objects.8 place inspect qualified filter with dry blood slice in plastic bag, kept in 2-8℃refrigerator inter-cooled deposit.9 delivery dry blood piece to laboratory within the stipulated time. 10, cannot use contain EDTA or citric acid salt collection equipment.Send the above steps qualified specimens to China xie-he medical university laboratory medicine r&d center within the stipulated time, applied tandem mass spectrometry (ms) technology for testing . 5931 cases were in computer testing, screening specimen of positive is 204. For screening positive in disease, distribute structure, distribution of age and gender, and applicate statistical software SPSS13.0 to statistical analysis, using a chi-square test, P < 0.05 with a statistical significance.Results:1 5931 cases were screening samples, and positie cases of 204, a total of 21 kind of disease.In them, 113 cases are propionic academia,9 cases are isovaleric academia,9 cases are maple sugar urine disease,8 cases are carnitine deficiency,7 cases are M chain of A co-enzyme acyl malata dehydrogenase deficiency,7 cases are Hydroxyl short chain acyl coenzyme A dehydrogenase deficiency,6 cases are glutaric aciduria I,6 cases are homocystinuria,6 cases are citrullinemia,5 cases are Carnitine/acyl carnitine shift enzyme deficiency,5 cases are Many acyl coenzyme A dehydrogenase deficiency,5 cases are tyrosinemia,5 cases are homocitrullinuria syndrome,3 cases are Very long chain acyl coenzyme A dehydrogenase deficiency,3 cases are Carnitine palm acyl transfer enzyme deficiency I,2 cases are Mitochondrial three faculties protein deficiency,2 cases are methylmalonic aciduria,1 cases are Short chain acyl coenzyme A dehydrogenase deficiency,1 cases are Fine ammonia butanedioic acid urine disease,1 cases are argininemia,1 cases are Methylmalonic academia.2 in all screening cases, 3563 are boys, and 130 of them are positive; 2368 are girls, and 74 of them are positive , there was no significant difference from the positive rate in gender.3 All screening cases, babys less or equal to 3 months are 2830 ,and 150 cases are positive; More than 3 months and less than or equal to 6 months are1120,and 18 cases are positive; More than 6 months and less than or equal to 1 yearare 1001,and 17 cases are positive; More than 1 years of children are 980,and 19 cases are positive. Comparison of the age, P < 0.01, the difference was significant.4 All screening cases involve 20 hospitals, in 204 positive cases 38 cases are in TangShan Women and Children's Hospital,22 cases are in HanDan Women and Children's Hospital,31 cases are in Children's Hospital of HeBei province,30 cases are in RenMin Hospital of HeBei province,28 cases are in The Second Hospital of HeBei Medical University,10cases are in The Third Hospital of HeBei Medical University,8 cases are in The Fouth Hospital of Shijiazhuang,5 cases are in central hospital of Cangzhou,other hospitals also include Peace Hospital of HeBei province,The First Hospital of HeBei Medical University,The Fouth Hospital of HeBei Medical University,BaoDing Women and Children's Hospital,Cangzhou Women and Children's Hospital,Qinghuangdao Women and Children's Hospital and so on,positive cases are less than 5.Conclusions:1 In Shijiazhuang area, spectrum of inherited metabolic disorders is widely, and mainly is Organic acid metabolization obstacle's propionic academia.2 The smaller the screening age, the higher the positive screening rate is.3 There was no evident difference from boy and girl in positive screening rate.4 Positie cases are mainly concentrated in TangShan Women and Children's Hospital,HanDan Women and Children's Hospital,Children's Hospital of HeBei province,RenMin Hospital of HeBei province,The Second Hospital of HeBei Medical University,The Third Hospital of HeBei Medical University.5 HeBei Province may be the high risk area,so screening the IMD has important significance.