法布里病的在体血管功能评价

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。

Evaluation of vascular function in patients with Fabry disease

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 pa-tients with Fabry disease and 14 healthy controls by means of flow-mediated dilation ( FMD) and Nitro-glycerin-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 con-trols.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 posteri-or circulation .Conclusion:Endothelial function showed no decline in patients with Fabry disease , but cerebrovascular autoregulation capacity tended to be impaired in posterior circulation .