对62例高危早产儿遗传代谢疾病的筛查  

Screening of 62 Premature Infants at High Risk for Inherited Metabolic Disorders

作　　者：姚宝珍[1] 袁昊[1] 黄婷婷[1] 李小鸥[1] 张海菊[1] 

机构地区：[1]武汉大学人民医院儿科,湖北武汉430060

出　　处：《武汉大学学报（医学版）》2017年第4期647-650,共4页Medical Journal of Wuhan University

基　　金：湖北省卫生和计划生育委员会资助项目(编号:WJ2015MB085)

摘　　要：目的:通过血串联质谱检测,初步了解遗传代谢性疾病在高危早产儿中发病率,探讨早产儿各特征与遗传代谢性病的关系。方法:采用血串联质谱法(MS/MS)对62例遗传代谢性疾病高危早产儿进行筛查,分析筛选出的阳性患儿性别、胎龄、出生体重分别在遗传代谢性疾病中的发病率。结果:纳入62例高危早产儿,共发现7例遗传代谢性疾病患儿,其中5例肉碱缺乏症,2例高鸟氨酸血症。发现性别(χ~2=0.579,P>0.05)、胎龄(χ~2=0.901,P>0.05)与遗传代谢性疾病发病率无明显关系,与出生体重有明显关系(χ~2=6.589,P<0.05),提示发病率在极低出生体重儿高于其他出生体重儿。结论:对不能明确病因的疑似遗传代谢性疾病的早产儿,应进行遗传代谢性疾病筛查,其阳性率增高。对出生体重低的早产儿应警惕遗传代谢性疾病可能。Objective： To investigate risk factors for inherited metabolic disorders（IMDs） in premature infants. Methods： Sixty-two premature infants at high risk for IMDs were screened using tandem mass spectrometry. For those with positive results, the relationship between disease incidence and sex, gestational age, birth weight were detected. Results. Seven of the 62 premature infants received a preliminary diagnosis of an IMD. The types of IMDs detected by the screening tests included carnitine deficiency（5 cases）and urea cycle disorder（2 cases）. There were no relationship between sex （χ2 =0. 579,P〉0.05）, gestational age（χ2 =0. 901,P〉0.05）and the incidence of IMDs. The incidence of IMDs was higher in extremely low birth weight infants（χ2 =6. 589,P〈 0.05）. Conclusion. For immature infants suspected IMDs, mass spectrometry have a higher positive rate. Especially for those with extremely low birth weight, IMDs should be considered.

关 键 词：高危 早产儿 遗传代谢性疾病 串联质谱法 

分 类 号：R722.11[医药卫生—儿科]