中文摘要：

目的：评价法布里病患者血管内皮细胞功能及脑血流自主调节能力。方法：对8例法布里病患者与14例健康对照者进行肱动脉舒张功能试验,分别计算血流介导的内皮依赖性舒张功能（flow-mediated dilation,FMD）及硝酸甘油介导的非内皮依赖性舒张功能（nitroglycerin-mediated dilation,NMD）。对4例法布里病患者及14例健康对照者分别测量大脑中动脉和大脑后动脉血流速度,利用呼吸抑制试验计算呼吸抑制指数（breath holding index,BHI）及血管运动反应性（vascular motor reactivity,VMR）,评价脑小血管CO2反应性。结果：法布里病患者的FMD及NMD值分别为15.94%±5.03%和23.92%±7.23%,对照组的FMD及NMD值分别为14.57%±5.84%和22.64%±6.96%,两组间差异无统计学意义（P〉0.05）。患者的FMD值和NMD值与年龄、病程、MSSI评分以及α半乳糖苷酶A活性水平之间无统计学相关性。患者前循环BHI及VMR值较对照组无明显差别,但后循环BHI及VMR值较对照组有降低趋势。结论：法布里病患者血管内皮细胞功能下降不明显,而脑后循环血管储备能力存在下降趋势。

英文摘要：

Objective： To evaluate the endothelial functions and autoregulation capacity of cerebral blood flow in patients with Fabry disease. Methods： Brachial artery vasodilation was assessed in 8 patients with Fabry disease and 14 healthy controls by means of flow-mediated dilation（ FMD） and Nitroglycerin-mediated dilation（ NMD）. Cerebrovascular reactivity was calculated in terms of breath-holding index（ BHI） and vascular motor reactivity（ VMR） by TCD-CO2 test in 4 patients and 14 healthy controls. Results： Compared with the controls,brachial artery vasodilation experiment showed no difference（ the patients： FMD 15. 94% ± 5. 03% and NMD 23. 92% ± 7. 23%,the controls： FMD 14. 57% ±5. 84% and NMD 22. 64% ± 6. 96%）,there was no relationship between FMD or NMD and the age,course of disease,MSSI or enzyme activity. In respect of cerebrovascular autoregulation capacity,there was no difference in anterior circulation,while cerebrovascular reactivity tended to be impaired in posterior circulation. Conclusion： Endothelial function showed no decline in patients with Fabry disease,but cerebrovascular autoregulation capacity tended to be impaired in posterior circulation.