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目的研究黏多糖病(MPS)患者尿液中α1-抗胰蛋白酶(α1-AT)含量,探讨尿液α1-AT含量与MPS的关系。方法选取2015年3月~2016年6月在解放军总医院儿童医学中心确诊的MPSⅠ型患者18例(MPSⅠ组),MPSⅡ型患者11例(MPSⅡ组)和本院查体人员30例(健康对照组),收集晨尿,运用ELISA和Western Blot方法检测尿液中α1-AT含量。结果用ELISA方法检测MPSⅠ组尿液α1-AT/Cr比值为(57.65±10.43)mg/mmol,MPSⅡ组为(55.89±7.43)mg/mmol,健康对照组为(33.32±3.59)mg/mmol,MPSⅠ组、Ⅱ组均显著高于健康对照组(P<0.05),用Western Blot方法进行验证,结果与ELISA方法相一致。结论α1-AT含量在MPS患者尿液中升高,可作为MPS辅助诊断指标。
Objective To study the content of α1-antitrypsin (α1-AT) in the urine of patients with mucopolysaccharidosis (MPS) and to explore the relationship between urinary α1-AT content and MPS. Methods From March 2015 to June 2016, 18 MPSⅠpatients (MPSⅠgroup), 11 MPSⅡpatients (MPSⅡgroup) and 30 cases of physical examination in our hospital were enrolled in the Children’s Medical Center of Chinese PLA General Hospital. Morning urine was collected, and the content of α1-AT in urine was detected by ELISA and Western Blot. Results The urinary α1-AT / Cr ratio was (57.65 ± 10.43) mg / mmol in MPSⅠgroup and (55.89 ± 7.43) mg / mmol in MPSⅠgroup and (33.32 ± 3.59) mg / mmol in healthy group) MPSⅠgroup and Ⅱ group were significantly higher than the healthy control group (P <0.05), Western Blot method for validation, the results are consistent with the ELISA method. Conclusion α1-AT content in MPS patients increased urine, MPS can be used as a diagnostic indicator.