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1型神经纤维瘤病患儿的心脏性猝死

Sudden cardiac death in young children with neurofibromatosis type 1.

作者信息

Kanter Ronald J, Graham Matthew, Fairbrother David, Smith S Victor

机构信息

Division of Pediatric Cardiology, Department of Pediatrics, Duke University School of Medicine, Durham, NC 27710, USA.

出版信息

J Pediatr. 2006 Nov;149(5):718-20. doi: 10.1016/j.jpeds.2006.07.046.

DOI:10.1016/j.jpeds.2006.07.046
PMID:17095352
Abstract

Patients with neurofibromatosis type 1 (NF1) can manifest a characteristic vasculopathy that in adults is rarely associated with fatal coronary artery occlusion. We describe the clinical and pathological findings from 2 unrelated young children with NF1, a similar vasculopathy affecting their coronary arteries, and sudden cardiac death.

摘要

1型神经纤维瘤病(NF1)患者可表现出一种特征性血管病变,在成人中很少与致命性冠状动脉闭塞相关。我们描述了2名无亲缘关系的患有NF1的幼儿的临床和病理发现,他们患有影响冠状动脉的类似血管病变,并发生了心源性猝死。

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Sudden cardiac death in young children with neurofibromatosis type 1.1型神经纤维瘤病患儿的心脏性猝死
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Front Genet. 2019 Feb 15;10:50. doi: 10.3389/fgene.2019.00050. eCollection 2019.
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Nf1+/- monocytes/macrophages induce neointima formation via CCR2 activation.Nf1基因杂合的单核细胞/巨噬细胞通过CCR2激活诱导新生内膜形成。
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Neurofibromatosis type 1 complicated by atypical coarctation of the thoracic aorta.1型神经纤维瘤病合并非典型胸主动脉缩窄。
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Nf1+/- mice have increased neointima formation via hyperactivation of a Gleevec sensitive molecular pathway.Nf1基因杂合缺失小鼠通过一种对格列卫敏感的分子途径过度激活,导致新生内膜形成增加。
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