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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 understand the prevalence of genetic metabolic diseases in high-risk premature infants through blood tandem mass spectrometry and to explore the relationship between the characteristics of preterm infants and the genetic metabolic diseases. Methods: Sixty-two high-risk preterm infants with genetic metabolic diseases were screened by using tandem mass spectrometry (MS / MS). The prevalences of gender, gestational age and birth weight among those with inherited metabolic diseases were analyzed. . RESULTS: Sixty-two high-risk preterm infants were enrolled in this study. A total of seven children with inherited metabolic diseases were found, including 5 cases of carnitine deficiency and 2 cases of ornithinemia. There was no significant relationship between sex and age (χ ~ 2 = 0.579, P> 0.05) and gestational age (χ ~ 2 = 0.901, P> 0.05) , P <0.05), suggesting that the incidence of very low birth weight children is higher than other birth weight children. Conclusion: Preterm infants with suspected genetic and metabolic diseases who can not have a definite cause should be screened for genetic metabolic disease and their positive rate should be increased. Premature babies with low birth weight should be alert to genetic metabolic diseases.