青海地区88例高危婴幼儿遗传性代谢疾病筛查的探讨

Preliminary Screening for Inherited Metabolic Diseases in 88 Cases of High-risk Infants in Qinghai Province

目的:了解青海地区高危婴幼儿遗传性代谢疾病的发病率,并对患儿的临床特点进行分析,以便早期诊断,及时进行临床治疗。方法:对88例疑似遗传代谢病高危新生儿,采用串联质谱技术法(tandemmassspectrometry,MS/MS)进行血液、尿液化学分析。结果:88例患儿中尿液有机酸异常者9例(10.22%),包括多种有机酸减低或增高者,临床主要表现为肝脾肿大、黄疸、精神运动发育落后、肌张力异常、惊厥或间断性抽搐、昏迷等。实验室检查为肝功能异常血氨升高、代谢性酸中毒、空腹低血糖、头颅CT或MR显示异常等。血片串联质谱检测异常者18例(占20.45%),其中各种氨基酸和肉碱增高者5例,各种氨基酸和游离肉碱减低者3例,各种氨基酸升高者7例,各种游离肉碱增高者1例,各种氨基酸降低者2例。结论:对西宁地区临床表现和实验室检查不能明确病因疑似遗传代谢病的患儿进行遗传性代谢疾病的筛查,显示阳性率增高。

Objectives：To investigate the incidence and clinical features of inherited metabolic disease in high - risk infants in Qinghai province in order to help early diagnosis and treatment. Methods： Blood and urine samples of 88 cases of high - risk infants were collected and analyzed using tandem mass spectrometry （ MS / MS） tech- nique. Results ： Analysis of 88 urine samples using MS/MS showed 9 cases （ 10.22% ） with abnormal levels of u- rine organic acids. The levels of a variety of urine organic acids were either decreased or elevated. Major clinical manifestations in these patients included hepatosplenomegaly, jaundice, mental retardation, dystonia, seizures or intermittent seizures, and coma. Laboratory inspection indicated abnormal liver function, including elevated blood ammonia, metabolic acidosis and fasting hypoglycemia. Cranial CT or MR also showed abnormalities. Blood analy- sis by MS/MS showed 18 cases （20.45%） with abnormalities, in which 5 cases showed elevated amino acid and carnitine levels; 3 cases showed reduced levels of amino acids and free carnitine; 7 cases showed only elevated a- mino acid levels; 1 cases showed only elevated carnitine level and 2 cases showed decreased amino acid levels. Conclusions： Preliminary screening for inherited metabolic diseases in 88 cases of high - risk infants through labo- ratory and clinical analysis indicated that the incidence of inherited metabolic disease in Qinghai province is higher than other areas in China.