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[Transthyretin Arg-83 mutation in vitreous amyloidosis].玻璃体淀粉样变性中的转甲状腺素蛋白精氨酸-83突变
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Long-term follow-up of retinal amyloid angiopathy in a large Chinese family with hereditary amyloid transthyretin.一个患有遗传性转甲状腺素蛋白淀粉样变性的中国大家庭中视网膜淀粉样血管病的长期随访
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本文引用的文献

1
Ocular amyloid angiopathy associated with familial amyloidotic polyneuropathy caused by amyloidogenic transthyretin Y114C.由淀粉样前体蛋白转甲状腺素蛋白Y114C引起的与家族性淀粉样多神经病相关的眼部淀粉样血管病。
Ophthalmology. 2005 Dec;112(12):2212. doi: 10.1016/j.ophtha.2005.05.028. Epub 2005 Oct 12.
2
Intravitreal levels of vascular endothelial growth factor and interleukin-6 are correlated with macular edema in branch retinal vein occlusion.玻璃体内血管内皮生长因子和白细胞介素-6水平与视网膜分支静脉阻塞性黄斑水肿相关。
Graefes Arch Clin Exp Ophthalmol. 2006 Mar;244(3):309-15. doi: 10.1007/s00417-004-1087-4. Epub 2005 Aug 13.
3
An aggressive form of familial amyloid polyneuropathy caused by a Glu54Gly mutation in the transthyretin gene.
Eur J Neurol. 2005 Aug;12(8):657-9. doi: 10.1111/j.1468-1331.2005.01005.x.
4
Vitreous levels of pigment epithelium-derived factor and vascular endothelial growth factor: implications for ocular angiogenesis.色素上皮衍生因子和血管内皮生长因子的玻璃体液水平：对眼部血管生成的影响
Am J Ophthalmol. 2004 Apr;137(4):668-74. doi: 10.1016/j.ajo.2003.11.015.
5
A different amyloid formation mechanism: de novo oculoleptomeningeal amyloid deposits after liver transplantation.一种不同的淀粉样蛋白形成机制：肝移植后新发眼软脑膜淀粉样蛋白沉积
Transplantation. 2004 Feb 15;77(3):345-9. doi: 10.1097/01.TP.0000111516.60013.E6.
6
Ocular amyloid involvement after liver transplantation for polyneuropathy.
Ann Intern Med. 2001 Nov 20;135(10):931-2. doi: 10.7326/0003-4819-135-10-200111200-00026.
7
Transthyretin mutations in hyperthyroxinemia and amyloid diseases.甲状腺素血症和淀粉样变疾病中的转甲状腺素蛋白突变
Hum Mutat. 2001 Jun;17(6):493-503. doi: 10.1002/humu.1132.
8
Transthyretin Leu12Pro is associated with systemic, neuropathic and leptomeningeal amyloidosis.转甲状腺素蛋白Leu12Pro与全身性、神经性和软脑膜淀粉样变性相关。
Brain. 1999 Feb;122 ( Pt 2):183-90. doi: 10.1093/brain/122.2.183.
9
Ocular manifestations of familial amyloidotic polyneuropathy type I: long-term follow up.I型家族性淀粉样多神经病的眼部表现：长期随访
Br J Ophthalmol. 1997 Apr;81(4):295-8. doi: 10.1136/bjo.81.4.295.
10
Transthyretin gene analysis in European patients with suspected familial amyloid polyneuropathy.欧洲疑似家族性淀粉样多神经病患者的转甲状腺素蛋白基因分析
Brain. 1995 Aug;118 ( Pt 4):849-56. doi: 10.1093/brain/118.4.849.

伴有转甲状腺素蛋白Glu54Gly突变的家族性淀粉样多神经病中的早发性玻璃体淀粉样变性与玻璃体血管内皮生长因子升高有关。

Early onset vitreous amyloidosis in familial amyloidotic polyneuropathy with a transthyretin Glu54Gly mutation is associated with elevated vitreous VEGF.

作者信息

O'Hearn T M, Fawzi A, He S, Rao N A, Lim J I

机构信息

Retina Service, Eye and Ear Infirmary, University of Illinois, 1855W Taylor St, Suite 2.50, Chicago, IL 60612, USA.

出版信息

Br J Ophthalmol. 2007 Dec;91(12):1607-9. doi: 10.1136/bjo.2007.119495. Epub 2007 May 23.

DOI:10.1136/bjo.2007.119495
PMID:17522146
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2095545/
Abstract

AIM

To report the early vitreous involvement in a rare familial amyloidotic polyneuropathy (FAP) mutation and associated vitreous vascular endothelial growth factor (VEGF) levels.

DESIGN

Observational case series.

METHODS

Review of clinical, pathological, photographic, and angiographic records of two FAP siblings with severe vitreous involvement. Laboratory ELISA analysis of vitreous samples for VEGF, and DNA sequence analysis of peripheral blood for transthyretin (TTR) mutational analysis.

RESULTS

Two patients underwent 25-gauge vitrectomy in three eyes with marked improvement of visual acuity. Neovascularisation seen intraoperatively responded to endolaser. Analysis of vitrectomy samples for VEGF showed raised levels in all three specimens. Mutational analysis revealed an isolated Glu54Gly mutation in the transthyretin gene.

CONCLUSIONS

Early involvement of the vitreous occurs in a rare transthyretin mutation of FAP, with increased vitreous levels of VEGF.

摘要

目的

报告一种罕见的家族性淀粉样多神经病（FAP）突变早期玻璃体受累情况及相关的玻璃体血管内皮生长因子（VEGF）水平。

设计

观察性病例系列。

方法

回顾两名严重玻璃体受累的FAP同胞的临床、病理、摄影及血管造影记录。采用实验室酶联免疫吸附测定（ELISA）法分析玻璃体样本中的VEGF，并对外周血进行DNA序列分析以检测转甲状腺素蛋白（TTR）突变。

结果

两名患者三只眼接受了25G玻璃体切除术，视力显著改善。术中所见新生血管对眼内激光治疗有反应。对玻璃体切除样本进行VEGF分析显示，所有三个样本中的VEGF水平均升高。突变分析显示转甲状腺素蛋白基因存在孤立的Glu54Gly突变。

结论

FAP的一种罕见转甲状腺素蛋白突变会早期累及玻璃体，且玻璃体VEGF水平升高。