摘要
【摘要】目的对新生儿重症监护病房（NICU）遗传代谢病的临床特征进行分析，以提高临床医师对此类疾病的早期诊断能力。方法2012年1月至2015年4月在福建省妇幼保健院NICU住院的新生儿5590例，其中高危新生儿340例，对高危患儿以串联质谱及气相色谱-质谱技术进行遗传代谢病筛查，并对确诊患儿的临床特点及实验室检查进行回顾性分析。结果共确诊遗传代谢病15例，其中甲基丙二酸血症5例，枫糖尿症2例，高苯丙氨酸血症2例，希特林蛋白缺乏症2例，丙酸血症1例，戊二酸血症1例，鸟氨酸氨甲酰转移酶缺陷症1例，原发性肉碱缺乏症1例。66．7％（10／15例）患儿在出生后1周内发病，且病情危重。患儿临床表现多样，主要涉及神经系统、消化系统及呼吸系统症状，如反应筹、昏迷、嗜睡、肌张力异常、惊厥、气促、呼吸困难、拒乳、腹泻、黄疸等。首发症状以纳差、嗜睡、抽搐及呼吸困难为主，无特异性。结论新生儿期起病的遗传代谢病临床表现无特异性。发病早者病情重，及早行串联质谱及气相色谱-质谱技术分析可早期诊断，并指导临床早期干预和治疗。
Objective To study the clinical characteristics of inherited metabolic disease （IMD） in the neo- natal intensive care unit and to improve the ability of early diagnosis of the disease. Methods A total of 5 590 newbo- rns were hospitalized in the Neonatal Intensive Care Unit （NICU）, Fujian Maternity and Children Hospital between January 2012 and April 2015, and 340 neonates who were suspected of IMD consecutively were recruited. Tandem mass spectrometry and gas chromatography - tandem mass spectrometry were used to diagnose IMD. A retrospective study of analyzing the clinical characteristics of the patients of IMD in the NICU was conducted. Results Fifteen neonates were diagnosed as IMD, among whom methyhnalonic academia, maple syrup urine disease,hyperphenylalaninemia, citrin defi- ciency,propionic acidemia, glutaric academia, ornithine transcarbamylase deficiency and primary caruitine deficiency were 5,2,2,2,1,1,1 and 1 , respectively. Sixty -six point seven percent （10/15 cases） of IMD onset in the first week after birth were severe. Clinical presentations include the nervous was severe, digestive system and respiratory system symptoms, such as poor response, coma, lethargy, dystonia, convulsion, shortness of breath, dyspnea, milk refusal, diar- rhea ,jaundice, and so on. The main early manifestations were anorexia, lethargy, seizures and shortness of breath, which were nonspecific. Conclusions Clinical manifestations of IMD are nonspecific. The earlier onset of the disease is more serious,and early tandem mass spectrometry and gas phase chromatogyaphy - mass spectrometry are useful for early diagnosis and may guide early clinical intervention.
作者
石惠英
杨长仪
张宝泉
徐颖
张雅迪
蔡文红
Shi Huiying Yang Changyi Zhang Baoquan Xu Ying Zhang Yadi Cai Wenhong(Department of Neonatology, Fujian Provincial Maternity and Children＇ s Hospital of Fujian Medical University, Fuzhou 350001, China)
出处
《中华实用儿科临床杂志》
CSCD
北大核心
2016年第20期1556-1558,共3页
Chinese Journal of Applied Clinical Pediatrics
关键词
遗传代谢病
临床特点
质谱技术
婴儿
新生
Inherited metabolic disease
Clinical characteristics
Tandem mass spectrometry
Infant, newborn
