尿蝶呤检测在高苯丙氨酸血症鉴别诊断中的应用  

The Urinary Pterin Analysis in the Diagnosis of Hyperphenylalaninemia

作　　者：万智慧[1] 刘伟[1] 孔元原[1] 谢鑫[1] 王晶[1] 马志军[1] WAN Zhihui;LIU Wei;KONG Yuanyuan;MA Zhijun(Department of Clinical Laboratory,Beijing Obstetrics and Gynecology Hospital,Capital Medical University,Beijing Maternal and Child Health Care Hospital,Beijing 100026,China)

机构地区：[1]首都医科大学附属北京妇产医院,北京妇幼保健院检验科,北京100026

出　　处：《标记免疫分析与临床》2020年第7期1223-1227,共5页Labeled Immunoassays and Clinical Medicine

基　　金：首都医科大学基础-临床科研合作基金(编号:17JL58)。

摘　　要：目的利用高效液相色谱技术(HPLC)建立尿蝶呤谱的检测方法,检测小儿尿液中新蝶呤(neopterin, N)和生物蝶呤(biopterin, B)的水平,分析方法的检测性能,评估该方法用于新生儿高苯丙氨酸血症(HPA)鉴别诊断的可行性。方法(1)检测新蝶呤和生物蝶呤标准品,评估HPLC检测尿蝶呤的性能;(2)检测16例确诊的HPA样本,评估该方法用于新生儿HPA鉴别诊断的可行性。结果 (1)HPLC检测N和B的批内和批间精密度分别为:N(3.91%~8.20%,3.70%~5.77%)和B(4.06%~8.19%,3.55%~5.67%),符合精密度要求;(2)处理好的尿液样本在-20℃储存,稳定性较好;(3)16例HPA患儿的N和B检测结果与临床诊断一致。结论 HPLC检测N和B水平的性能参数符合实验要求,可用于HPA患儿的鉴别诊断。Objective To establish a method for the determination of neopterin and biopterin in urine through high performance liquid chromatograph(HPLC), and evaluate the performance of HPLC and the feasibility of urinary pterin analysis in the diagnosis of hyperphenylalaninemia.Methods(1) Evaluation the performance of HPLC applied in urinary pterin analysis through calculating the inaccuracy and stability.(2) A total of 16 confirmed HPA samples were detected by HPLC to evaluate the feasibility of this method in the diagnosis of HPA.Results(1) The intra-assay and inter-assay precisions were: neopterin(3.91%-8.2%, 3.7%-5.77%) and biopterin(4.06%-8.19%,3.55%-5.67%), which met the requirement;(2) The treated urine samples had a good stability when stored at-20℃;(3) The results of 16 confirmed HPA samples were consistent with the clinical diagnosis.Conclusion The present study suggests that the HPLC equipment and the established method are suitable for the implementation and have acceptable performances for the diagnosis of HPA.

关 键 词：高苯丙氨酸血症 高效液相色谱 新蝶呤 生物蝶呤 

分 类 号：R722[医药卫生—儿科]