用于鉴定法布里病患者的全血α-D-半乳糖苷酶 A 活性。

Whole-blood alpha-D-galactosidase A activity for the identification of Fabry's patients.

机构信息

Department of Chemistry, Biochemistry and Biotechnologies for Medical Sciences, University of Milan, Milan, Italy.

出版信息

Clin Biochem. 2011 Jul;44(10-11):916-21. doi: 10.1016/j.clinbiochem.2011.03.141. Epub 2011 Apr 16.

DOI:10.1016/j.clinbiochem.2011.03.141

PMID:21515249

Abstract

OBJECTIVES

ERT application to Fabry's disease patients needs sensitive assay method of the missing enzyme (α-d-galactosidase A) to achieve early diagnosis.

DESIGN AND METHODS

A new fluorimetric assay method of α-d-galactosidase A was developed, using whole blood (WB) from 30 healthy individuals, 7 hemizygous males and 7 heterozygous females with Fabry's disease. This method was compared with the traditional dried blood spot (DBS) method.

RESULTS

WB method analytical characteristics are: linearity up to 2000mU/L; detection limit: 4mU/L; linearity versus time: 6h; enzyme stability: 7 days at 4°C; total analytical imprecision: from 3.27% to 5.72%. Sensitivity was higher in WB than DBS method. All hemizygous Fabry's patients were identified by both the WB and DBS methods. With regards to the seven heterozygous carriers five could be identified by the WB methods and three by the DBS method.

CONCLUSION

The WB assay method for α-D-galactosidase A appears to be reliable and proposable as a routine method for prompt diagnosis of Fabry disease in selected at-risk populations.

摘要

目的

ERT 在法布里病患者中的应用需要缺失酶（α-d-半乳糖苷酶 A）的灵敏检测方法，以实现早期诊断。

设计和方法

我们开发了一种新的α-d-半乳糖苷酶 A 荧光检测方法，使用了 30 名健康个体、7 名半合子男性和 7 名杂合子女性的全血（WB）。该方法与传统的干血斑（DBS）方法进行了比较。

结果

WB 方法的分析特征为：线性范围达 2000mU/L；检测限：4mU/L；线性与时间：6h；酶稳定性：4°C 下 7 天；总分析精密度：3.27%至 5.72%。与 DBS 方法相比，WB 方法的灵敏度更高。所有半合子法布里病患者均通过 WB 和 DBS 两种方法得到识别。对于这 7 名杂合子携带者，有 5 名可以通过 WB 方法识别，3 名可以通过 DBS 方法识别。