Repeated de novo aneurysm formation after anastomotic surgery: Potential risk of genetic variant RNF213 c.14576G>A.
Repeated de novo aneurysm formation after anastomotic surgery: Potential risk of genetic variant RNF213 c.14576G>A.
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DOI：
10.4103/2152-7806.153709
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发表时间：
2015
影响因子：
--
通讯作者：
Tsutsumi K
中科院分区：
文献类型：
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作者：
Fukushima Y;Miyawaki S;Inoue T;Shimizu S;Yoshikawa G;Imai H;Saito N;Tsutsumi K
颅内吻合术后新生动脉瘤形成是一种相对罕见的并发症，报道病例不足20例，其机制尚不清楚。一名 63 岁男性因症状性颈内动脉闭塞而接受治疗，在 10 年间，第一次吻合颞浅动脉-大脑中动脉和第二次颈外动脉-桡动脉-大脑中动脉后，两次出现新发动脉瘤。第一个新发动脉瘤成功切除，病理诊断为真性动脉瘤。第二个新生动脉瘤逐渐生长后自然形成血栓。对患者的基因检测显示，无名指蛋白 213 存在 c.14576G>A (p.R4859K) 变异，这是烟雾病的易感基因。这种遗传变异可能与动脉瘤的重复形成有关，该病例代表了该遗传变异的罕见表型。
De novo aneurysm formation after intracranial anastomotic surgery is a relatively rare complication with fewer than 20 reported cases, and the mechanism is still unclear. A 63-year-old male treated for symptomatic internal carotid artery occlusion developed de novo aneurysms twice after anastomoses first of the superficial temporal artery-middle cerebral artery and second of the external carotid artery-radial artery-middle cerebral artery over a 10-year period. The first de novo aneurysm was successfully resected with pathological diagnosis of true aneurysm. The second de novo aneurysm thrombosed naturally after gradual growth. Genetic testing of the patient revealed the c.14576G>A (p.R4859K) variant in ring finger protein 213, which is a susceptibility gene for moyamoya disease. This genetic variant was probably involved in the repeated de novo aneurysm formation, and this case represents a rare phenotype of the genetic variant.