Chinese familial transthyretin amyloidosis with vitreous involvement is associated with the transthyretin mutation Gly83Arg: A case report and literature review

YinJ.; XiaX.; ShiY.; LuY.; ZhaoC.; HuangZ.; TianN.

首页> 外文期刊>Amyloid: the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis >Chinese familial transthyretin amyloidosis with vitreous involvement is associated with the transthyretin mutation Gly83Arg: A case report and literature review

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Chinese familial transthyretin amyloidosis with vitreous involvement is associated with the transthyretin mutation Gly83Arg: A case report and literature review

机译：玻璃体受累的中国家族性甲状腺素转运蛋白淀粉样变性病与甲状腺素转运蛋白突变Gly83Arg有关：一例病例并文献复习

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We would like to report close on two sisters with recurrent vitreous involvement after vitrectomy and the need of subsequent surgical reintervention prompted the diagnosis of a TTR-related, familial form of vitreous amyloidosis. DNA analysis of the TTR gene showed a G->C transversion at the first nucleotide of codon 83, indicating a replacement of glycine (CGC) by arginine (GGC). A heterozygous mutation Gly83Arg was detected in two members of the family but not in unrelated controls. The diagnosis was made 5 years after the initial onset of symptoms.

机译：我们想报告玻璃体切除术后复发性玻璃体受累的两个姐妹，并且随后需要进行外科手术再手术提示诊断为TTR相关的家族性玻璃体淀粉样变。 TTR基因的DNA分析显示，第83个密码子的第一个核苷酸发生了G-> C转换，表明精氨酸（GGC）替代了甘氨酸（CGC）。在该家族的两个成员中检测到杂合突变Gly83Arg，但在无关亲戚中未检测到。诊断是在症状最初发作后的5年做出的。

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《Amyloid: the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis》 |2014年第2期|共3页
作者
YinJ.; XiaX.; ShiY.; LuY.; ZhaoC.; HuangZ.; TianN.;
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正文语种 eng
中图分类化学;
关键词
Familial transthyretin amyloidosis; Transthyretin; Vitreous opacities;

机译：家族性甲状腺素转运蛋白淀粉样变性;甲状腺素转运蛋白;玻璃体混浊;

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1. Chinese familial transthyretin amyloidosis with vitreous involvement is associated with the transthyretin mutation Gly83Arg: A case report and literature review [J] . YinJ., XiaX., ShiY., Amyloid: the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis . 2014,第2期

机译：玻璃体受累的中国家族性甲状腺素转运蛋白淀粉样变性病与甲状腺素转运蛋白突变Gly83Arg有关：一例病例并文献复习
2. Familial vitreous amyloidosis resulting from transthyretin variant Gly83Arg [J] . Xie Bing, Cai Shan-jun, Jiang Mo, Acta ophthalmologica . 2017,第6期

机译：由Transthyretin变体Gly83arg引起的家族式玻璃体淀粉样蛋白病
3. Early onset vitreous amyloidosis in familial amyloidotic polyneuropathy with a transthyretin Glu54Gly mutation is associated with elevated vitreous VEGF. [J] . OHearn TM, Fawzi A, He S, British journal of ophthalmology . 2007,第12期

机译：家族性淀粉样变性多发性神经病的早发性玻璃体淀粉样变性伴甲状腺素转运蛋白Glu54Gly突变与玻璃体VEGF升高有关。
4. CLINICAL DIAGNOSIS OF FAMILIAL TRANSTHYRETIN AMYLOIDOSIS BY AUTOMATED DATA ACQUISITION AND PROCESSING WITH QUADRUPOLE ORTHOGONAL TIME-OF-FLIGHT MASS SPECTROMETRY [C] . M.E. McComb, A. Lim, R. Theberge, International Symposium on Amyloidosis . 2005

机译：自动化数据采集及加工与四极正交 - 飞行时间质谱分析临床诊断家族性Transthyretin淀粉样蛋白症
5. Studies of an Unusual Transthyretin Protein (Ttr Glu51_Ser52dup) Associated with Familial Amyloidosis. [D] . Abdullahi, Hassan A. 2017

机译：与家族性淀粉样变性病相关的异常甲状腺素蛋白（Ttr Glu51_Ser52dup）的研究。
6. Early onset vitreous amyloidosis in familial amyloidotic polyneuropathy with a transthyretin Glu54Gly mutation is associated with elevated vitreous VEGF [O] . Thomas M OHearn, Amani Fawzi, Shikun He, 2007

机译：家族性淀粉样变性多发性神经病伴甲状腺素转运蛋白Glu54Gly突变的早发性玻璃体淀粉样变与玻璃体VEGF升高有关
7. Familial vitreous amyloidosis resulting from transthyretin variant Gly83Arg [O] . Bing Xie, Shan-jun Cai, Mo Jiang, 2017

机译：Transthyretin变体GLY83ARG产生的家族式玻璃体淀粉样蛋白病

Chinese familial transthyretin amyloidosis with vitreous involvement is associated with the transthyretin mutation Gly83Arg: A case report and literature review

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