Adult Moyamoya Disease: A Burden of Intracranial Stenosis in East Asians?
Adult Moyamoya Disease: A Burden of Intracranial Stenosis in East Asians?
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DOI：
10.1371/journal.pone.0130663
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发表时间：
2015
期刊：
影响因子：
3.7
通讯作者：
Hong SC
中科院分区：
文献类型：
--
作者：
Bang OY;Ryoo S;Kim SJ;Yoon CH;Cha J;Yeon JY;Kim KH;Kim GM;Chung CS;Lee KH;Shin HJ;Ki CS;Jeon P;Kim JS;Hong SC
烟雾病（MMD）和颅内动脉粥样硬化性狭窄（ICAS）在亚洲人中比在西方人中更普遍。我们假设相当一部分成年MMD患者被误认为患有ICAS，这可能部分解释了亚洲人颅内动脉粥样硬化性卒中的高患病率。我们分析了352例MCA分布区发生缺血性事件和相关颅内动脉狭窄但无明显颈动脉或心脏栓塞来源的连续患者。249例（70.7%）患者行常规血管造影，其余患者行MRA检查。分析了环指蛋白213（RNF 213）中c.14429G>A（p.Arg4810Lys）变体的发生。该基因最近被鉴定为东亚人MMD的易感基因。在半数颅内狭窄患者（176/352，50.0%）、无健康对照受试者（n = 51）和3.2%的卒中对照受试者（4/124例其他病因）中观察到p.Arg4810Lys变异。基底侧支循环的存在、血管造影双侧受累和无糖尿病与RNF 213变异体的存在独立相关。在131例符合所有三个诊断标准并被诊断为MMD的患者中，四分之三（75.6%）有这种变异。然而，符合两项标准（57.7%）、一项标准（28.6%）或无标准（20.0%）的患者中也有很大比例存在这种变异。其中一些患者在随访血管造影时出现了典型的MMD血管造影表现。在诊断ICAS时，需要仔细考虑MMD，因为这些疾病需要不同的治疗策略，并且由于目前MMD诊断标准的局限性。
Both Moyamoya disease (MMD) and intracranial atherosclerotic stenosis (ICAS) are more prevalent in Asians than in Westerners. We hypothesized that a substantial proportion of patients with adult-onset MMD were misclassified as having ICAS, which may in part explain the high prevalence of intracranial atherosclerotic stroke in Asians. We analyzed 352 consecutive patients with ischemic events within the MCA distribution and relevant intracranial arterial stenosis, but no demonstrable carotid or cardiac embolism sources. Conventional angiography was performed in 249 (70.7%) patients, and the remains underwent MRA. The occurrence of the c.14429G>A (p.Arg4810Lys) variant in ring finger protein 213 (RNF213) was analyzed. This gene was recently identified as a susceptibility gene for MMD in East Asians. The p.Arg4810Lys variant was observed in half of patients with intracranial stenosis (176 of 352, 50.0%), in no healthy control subjects (n = 51), and in 3.2% of stroke control subjects (4 of 124 patients with other etiologies). The presence of basal collaterals, bilateral involvement on angiography, and absence of diabetes were independently associated with the presence of the RNF213 variant. Among 131 patients who met all three diagnostic criteria and were diagnosed with MMD, three-fourths (75.6%) had this variant. However, a significant proportion of patients who met two criteria (57.7%), one criterion (28.6%), or no criteria (20.0%) also had this variant. Some of them developed typical angiographic findings of MMD on follow-up angiography. Careful consideration of MMD is needed when diagnosing ICAS because differential therapeutic strategies are required for these diseases and due to the limitations of the current diagnostic criteria for MMD.
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影响因子：
8.2
作者：
Fujimura M;Sonobe S;Nishijima Y;Niizuma K;Sakata H;Kure S;Tominaga T
通讯作者：
Tominaga T
影响因子：
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作者：
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作者：
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通讯作者：
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影响因子：
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作者：
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