中国实用儿科杂志

中国实用儿科杂志 ›› 2012, Vol. 27 ›› Issue (07): 509-512.

• 论著 • 上一篇    下一篇

75例肝病患儿干血滤纸片串联质谱结果分析

李启亮，宋文琪，徐樨巍   

  1. 首都医科大学附属北京儿童医院检验科，北京 100045
  • 出版日期:2012-07-06 发布日期:2012-07-18
  • 基金资助:

    吴阶平肝病实验诊断研究基金（LDWMF-SY-2011
    B007）

Study on the results analyzed by liquid chromatography-tandem mass spectrometry of dry blood filter paper in 75 children with hepatic diseases. 

  LI Qi-liang，SONG Wen-qi，XU Xi-wei. Beijing Children’s Hospital，Beijing 100045，China   

  • Online:2012-07-06 Published:2012-07-18

摘要：

目的    探讨液质联用串联质谱技术在筛查以黄疸为主要表现的肝病患儿中的临床意义。方法    选取2010年4月至2011年4月首都医科大学附属北京儿童医院肝病门诊就诊和消化内科住院且临床表现为黄疸、肝大、肝酶增高的儿童75例。收集其干血滤纸片进行液质联用串联质谱检测，并且进行数据分析。结果    75例患儿中有49例患儿的串联质谱分析结果正常；26例患儿出现不同程度的氨基酸谱或酰基肉碱谱的异常，其中包括有确诊遗传代谢性疾病5例和非遗传代谢性疾病15例，6例患儿尚未明确诊断。结论    临床上患儿出现不明原因的肝大、黄疸或肝酶增高等，尤其伴有血氨（NH3）或血清乳酸（LAC）升高时，应该考虑遗传代谢性疾病的可能。一些非遗传代谢性疾病患儿也可因肝脏继发损伤出现氨基酸谱或酰基肉碱谱的异常。

关键词: 关键词：液质联用串联质谱技术, 遗传代谢性疾病, 肝病, 儿童

Abstract:

Objective    To study the clinical significance of liquid chromatography-tandem mass spectrometry （LC-MS/MS） in the diagnosis of inherited metabolic liver disease in children with the main clinical manifestation of jaundice. Methods    A total of 75 cases of children（including outpatients and inpatients） with the clinical manifestations of jaundice，hepatomegaly and serum enymes increase were collected in Beijing Children’s Hospital  from Apirl 2010 to April 2011. The dry blood filter paper of all 75 cases were analyzed by LC-MS/MS and the data were analyzed by special software. Results The results of LC-MS/MS in 49 cases were normal. The levels of amino acids or acylcarnitines in 26 cases were abnormal，among whom 5 cases were troubled by inherited metabolic liver diseases，15 cases with other diseases，and 6 were with unknown diseases. Conclusion    If the children have the clinical manifestations of jaundice，hepatomegaly and high serum enymes，especially with high blood ammonia orlactic acid，the possibility of inherited metabolic liver disease should be considered. The levels of amino acids or acylcarnitines can be abnormal in some children without inherited metabolic liver disease because of liver secondary injury.

Key words: liquid chromatography-tandem mass spectrometry, inherited metabolic disease, liver disease, children

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