970例新生儿遗传性代谢病筛查及分子诊断结果分析  

Screening analysis of inherited metabolic disorders in 970 newborns and gene mutation analysis in the positive cases

作　　者：唐建平 孙红芹 张磊 石聪聪[2] 李雯丽[2] 李菲[3] 肖昕[2,3] 郝虎[2,3] 

机构地区：[1]广州市增城区妇幼保健院新生儿科,广东广州511300 [2]中山大学附属第六医院遗传代谢病实验室,广东广州510655 [3]中山大学附属第六医院儿科,广东广州510655

出　　处：《安徽医药》2017年第5期876-879,共4页Anhui Medical and Pharmaceutical Journal

基　　金：广东省医学科学技术研究项目(A2015374)

摘　　要：目的研究新生儿期遗传性代谢疾病(IMD)的发病率、临床特征及诊断方法。方法留取新生儿科970例新生儿的尿液样本,采用尿素酶预处理-气相色谱-质谱联用技术(UP-GC-MS)进行遗传性代谢病的诊断;对于确诊的患儿,收集患儿及其父母的外周血样本进行致病基因的Sanger测序分析。结果 970例新生儿中通过UP-GC-MS技术确诊遗传性代谢病5例,阳性率为1/194,包括甲基丙二酸尿症2例、尿素循环障碍2例、枫糖尿症1例。5例患儿相关致病基因的Sanger测序结果均发现致病突变。结论对于病因不明的新生儿期患儿应及早进行遗传性代谢疾病筛查,UP-GC-MS是诊断新生儿遗传性代谢病的快速有效方法,其检测结果可为患儿的早期诊断和治疗提供依据。对于阳性患儿,基因检测可进一步探讨其分子水平的致病病因,为临床医生提供可靠的分子检测结果,有效地为后续的临床治疗和遗传咨询提供依据。Objective To re se a rch the in c id e n c e , cl in ic al ch a rac te ris t ic s an d diagnostic methods of in h eri ted metabol ic disorders （IMD） in the newborns. Methods The urine samples from 970 newborns were collected. The urea se pretre atment-g as chromatogra-phy-mass spectrometry （ UP-GC-MS） was taken to diagnosis the metabolic disorders of inherited. The related disease genes from the pe-ripheral blood leukocytes of newborns patients with IMD and parents were analyzed by Sanger sequencing in genomic DNA. Results In the 970 cases,there were 5 cases of inherited metabolic diseases （IMD） （ 1/194） ,which including 2 cases of Methylmalonic acidur-ia^ cases of abnormal urea cycle and 1 cases of maple syrup urine disease. In addition, there were some pathogenic mutations in tested genes of the 5 cases. Conclusions For the newborns of unknown e t io lo g y , i t is very nec essary to diagnosis th e possibi lity of inheri ted metabolic diseases as soon as possible. UP-GC-MS is an effective method to diagnose inherited metabolic diseases. The results of the tests can provide effective guidance for diagnosis and treatment of suspected newborn. For patient,gene analysis can provide the base for the pathogenesis discussion from molecular level and reliable detection result for later clinical treatment and genetic counselling.

关 键 词：遗传代谢性疾病 气相色谱质谱技术 新生儿 基因 

分 类 号：R722.1[医药卫生—儿科]