Clinical Features and Surgical Outcomes of Patients With Moyamoya Disease and the Homozygous RNF213 p.R4810K Variant
Clinical Features and Surgical Outcomes of Patients With Moyamoya Disease and the Homozygous RNF213 p.R4810K Variant
复制标题
烟雾病和纯合 RNF213 p.R4810K 变异患者的临床特征和手术结果
DOI：
10.1177/0883073819858264
复制
发表时间：
2019-07
影响因子：
1.9
通讯作者：
Jizong Zhao
中科院分区：
文献类型：
--
作者：
Qian Zhang;Peicong Ge;Yonggang Ma;Dong Zhang;Rong Wang;Yan Zhang;Shuo Wang;Yong Cao;Meng Zhao;Jizong Zhao
Ring-finger protein 213（RNF 213）基因是烟雾病的主要易感基因。RNF 213上的p.R4810K变体的纯合子表现出烟雾病的早期发病年龄和严重形式。我们报告了4例无亲缘关系的儿童烟雾病病例，均为纯合子p.R4810K变异体，并报告了长期手术结果。回顾了已发表的关于p.R4810K纯合子变异型烟雾病手术结果的报道。脑血管造影显示4名儿童的7个半球的烟雾病的经典血管造影表现。所有患者均成功进行了间接血运重建。在所有旁路手术中，通过血管造影术观察到从颈外动脉到颈内动脉的丰富侧支血流。在长期随访中，所有患者的症状和脑血容量均得到改善。本报告是文献中关于这些患者手术治疗的第一个病例系列。这些病例强调了间接血运重建术对p.R4810K纯合子变异型烟雾病患者的有效性。早期诊断和治疗对于避免这些患者出现不可逆的神经功能缺损至关重要。
The ring-finger protein 213 (RNF213) gene is a major susceptibility gene for moyamoya disease. The homozygote of the p.R4810K variant on RNF213 exhibits an early onset age and severe form of moyamoya disease. We report 4 unrelated pediatric moyamoya disease cases with the homozygous p.R4810K variant and the long-term surgical outcomes. Published reports on surgical outcome of moyamoya disease case with the homozygous p.R4810K variant were reviewed. Cerebral angiography revealed classic angiographic findings of moyamoya disease in 7 hemispheres of the 4 children. All patients underwent successful indirect revascularization. Abundant collateral blood flow from the external carotid arteries to the internal carotid arteries was observed in all bypass procedures by angiography. Improvements in symptoms and cerebral blood volume were observed in all patients at long-term follow-up. This report is the first case series in the literature on the surgical management of these patients. These cases highlight the effectiveness of indirect revascularization for moyamoya disease patients with the homozygous p.R4810K variant. Early diagnosis and treatment are crucial to avoid irreversible neurologic deficits in these patients.
登录
查看更多内容
影响因子：
9.6
作者：
Chang, Sung-A;Song, Ju Sun;Kim, Duk-Kyung
通讯作者：
Kim, Duk-Kyung
影响因子：
4.8
作者：
Kim, SK;Seol, HJ;Wang, KC
通讯作者：
Wang, KC
影响因子：
2
作者：
Qian Zhang;Dong Zhang;Rong Wang;Yaping Liu;Yan Zhang;Shuo Wang;Ji-zong Zhao
通讯作者：
Qian Zhang;Dong Zhang;Rong Wang;Yaping Liu;Yan Zhang;Shuo Wang;Ji-zong Zhao
影响因子：
1.1
作者：
BOWER A J
通讯作者：
BOWER A J
影响因子：
2
作者：
L. Lanterna
通讯作者：
L. Lanterna