Moyamoya Disease: Epidemiology, Clinical Features, and Diagnosis.
Moyamoya Disease: Epidemiology, Clinical Features, and Diagnosis.
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DOI：
10.5853/jos.2015.01627
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发表时间：
2016-01
影响因子：
8.2
通讯作者：
Kim JS
中科院分区：
文献类型：
--
作者：
Kim JS
烟雾病（MMD）是一种慢性闭塞性脑血管疾病，其特征是颈内动脉末端进行性狭窄和脑底部血管网络异常。尽管其病因尚不清楚，但最近的遗传学研究发现17q25-ter区域的RNF213是东亚人群MMD的重要易感基因。可能是由于遗传差异，与西半球的人们相比，MMD 在韩国和日本等东亚国家的人们中相对常见。与韩国人和日本人相比，MMD 的患病率在中国人中似乎略低。有两个发病高峰，临床表现不同，分别是10岁左右和30-40岁。女性的高峰出现时间似乎晚于男性。在儿童中，缺血症状，尤其是短暂性脑缺血发作是主要症状。智力下降、癫痫发作和不自主运动在这个年龄段也更常见。相比之下，成人患者比儿童患者更常出现颅内出血。在MMD患者中，脑出血比高血压脑出血患者更常伴有脑室内出血。在美国的 MMD 患者中也观察到了每个年龄组的这些不同的年龄峰值和不同的临床表现。导管血管造影是首选的诊断方法。磁共振 (MR) 血管造影和计算机断层扫描血管造影是无创诊断方法。高分辨率血管壁 MR 成像还可以通过显示基底络脉同心血管壁狭窄来帮助诊断 MMD。
Moyamoya disease (MMD) is a chronic, occlusive cerebrovascular disease characterized by progressive stenosis at the terminal portion of the internal carotid artery and an abnormal vascular network at the base of the brain. Although its etiology remains unknown, recent genetic studies identified RNF213 in the 17q25-ter region as an important susceptibility gene of MMD among East Asian populations. Possibly because of genetic differences, MMD is relatively common in people living in East Asian countries such as Korea and Japan, compared to those in the Western Hemisphere. The prevalence of MMD appears to be slightly lower among Chinese, compared to Koreans or Japanese. There are two peaks of incidence with different clinical presentations, at around 10 years and 30-40 years. The peak appears to occur later in women than men. In children, ischemic symptoms, especially transient ischemic attacks, are predominant. Intellectual decline, seizures, and involuntary movements are also more common in this age group. In contrast, adult patients present with intracranial hemorrhage more often than pediatric patients. In patients with MMD, intracerebral hemorrhage is more often accompanied by intraventricular hemorrhage than in patients with hypertensive intracerebral hemorrhage. These different age peaks and different clinical presentations in each age group are also observed in MMD patients in the USA. Catheter angiography is the diagnostic method of choice. Magnetic resonance (MR) angiography and computed tomographic angiography are noninvasive diagnostic methods. High-resolution vessel wall MR imaging also helps diagnose MMD by revealing concentric vessel wall narrowing with basal collaterals.