Castro Pedro, Gutierres Mariana, Pereira Gilberto, Ferreira Susana, Oliveira João Paulo, Azevedo Elsa
Department of Clinical Neurosciences and Mental Health, Faculty of Medicine of University of Porto, 4200-319 Porto, Portugal.
Cardiovascular Research and Development Unit, Faculty of Medicine of University of Porto, 4200-319 Porto, Portugal.
Brain Sci. 2020 Aug 7;10(8):528. doi: 10.3390/brainsci10080528.
Fabry disease (FD) causes cerebrovascular disease (CVD) even if asymptomatic, and this is why it is important to identify non-invasive methods to monitor the disease. We evaluated the usefulness of the cerebral autoregulation, vasoreactivity, and neurovascular coupling assessed by transcranial Doppler (TCD) in FD.
Ten adult patients with classic phenotype FD, without clinical expression of CVD, and ten healthy controls, were included. We monitored cerebral blood flow velocity with TCD in the middle and posterior cerebral arteries, blood pressure, heart rate, and non-invasive expired carbon dioxide (CO). Cerebral autoregulation was calculated from the spontaneous oscillations of blood pressure, cerebral vasoreactivity through CO inhalation and hyperventilation and neurovascular coupling by the flow velocity change to visual stimulation.
FD male patients showed blunted vasoreactivity in posterior circulation (0.70 ± 0.36%/mmHg vs. 1.09 ± 0.18%/mmHg CO, = 0.01) and impaired neurovascular coupling (overshoot 15 ± 2.9% vs. 28 ± 6.1%, < 0.01). Cerebral autoregulation was similar to controls.
Male patients with FD classic phenotype and hitherto clinical expression of CVD already show impairment of cerebral vasoreactivity and neurovascular coupling. It supports the notion of an early dysfunction of cerebral microvascular in a presymptomatic stage of CVD in FD and that TCD could be useful in its assessment.
法布里病（FD）即使无症状也会引发脑血管疾病（CVD），这就是识别监测该疾病的非侵入性方法很重要的原因。我们评估了经颅多普勒（TCD）评估的脑自动调节、血管反应性和神经血管耦合在FD中的作用。
纳入10例具有典型表型FD的成年患者，无CVD临床表现，以及10名健康对照者。我们用TCD监测大脑中动脉和大脑后动脉的脑血流速度、血压、心率和无创呼出二氧化碳（CO）。通过血压的自发振荡计算脑自动调节，通过吸入CO和过度通气计算脑血管反应性，通过视觉刺激引起的血流速度变化计算神经血管耦合。
FD男性患者后循环血管反应性减弱（吸入CO时为0.70±0.36%/mmHg vs. 1.09±0.18%/mmHg，P = 0.01），神经血管耦合受损（过冲为15±2.9% vs. 28±6.1%，P < 0.01）。脑自动调节与对照组相似。
具有典型表型且迄今无CVD临床表现的FD男性患者已表现出脑血管反应性和神经血管耦合受损。这支持了在FD的CVD无症状阶段脑微血管早期功能障碍的观点，并且TCD在其评估中可能有用。
