Sporadic transthyretin amyloidosis with a novel TTR gene mutation misdiagnosed as primary amyloidosis

BrianiC.; CavallaroT.; FerrariS.; TaioliF.; CalamelliS.; VergaL.; AdamiF.; FabriziG.M.

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Sporadic transthyretin amyloidosis with a novel TTR gene mutation misdiagnosed as primary amyloidosis

机译：散发性运甲状腺素蛋白淀粉样变性病，其新的TTR基因突变被误诊为原发性淀粉样变性病

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Light-chain amyloidosis [1] is a rare disease caused by a clonal plasma cell dyscrasia associated with multiorgan deposition of amyloidogenic immunoglobulin light chains. Autosomal dominant transthyretin amyloidosis (ATTR) is an even rarer disorder caused by amyloidogenic mutant alleles of TTR manifesting with progressive and fatal involvement of the peripheral nerves, ganglia, heart, kidney, and eyes. The specific therapy is orthotopic liver transplantation [2]. ATTR may be overlooked because of phenotypical variability [3], and also misdiagnosed as AL because of possible coexistence of monoclonal gammopa-thy and limited sensitivity/specificity of light chain immunostaining of biopsy specimens [4, 5].

机译：轻链淀粉样变性病[1]是一种罕见的疾病，是由与淀粉样蛋白生成的免疫球蛋白轻链的多器官沉积有关的克隆性浆细胞发育不良引起的。常染色体显性遗传运甲状腺素蛋白淀粉样变性病（ATTR）是由TTR的淀粉样变性突变等位基因引起的一种更为罕见的疾病，表现为周围神经，神经节，心脏，肾脏和眼睛进行性和致命性侵袭。具体疗法是原位肝移植[2]。由于表型变异性，ATTR可能会被忽略[3]，并且由于单克隆γ-半乳糖凝乳酶可能并存，并且活检样本的轻链免疫染色的敏感性/特异性有限，可能会被误诊为AL [4，5]。

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《Journal of neurology》 |2012年第10期|共3页
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BrianiC.; CavallaroT.; FerrariS.; TaioliF.; CalamelliS.; VergaL.; AdamiF.; FabriziG.M.;
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正文语种 eng
中图分类神经病学;
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1. Sporadic transthyretin amyloidosis with a novel TTR gene mutation misdiagnosed as primary amyloidosis [J] . BrianiC., CavallaroT., FerrariS., Journal of neurology . 2012,第10期

机译：散发性运甲状腺素蛋白淀粉样变性病，其新的TTR基因突变被误诊为原发性淀粉样变性病
2. Association between a point mutation at the -743-bp region of the transthyretin (TTR) gene and familial vitreous amyloidosis [J] . X.M. Nie, S.J. Cai, B. Xie, Genetics and Molecular Research . 2016,第1期

机译：运甲状腺素蛋白（TTR）基因-743-bp区域的点突变与家族性玻璃体淀粉样变之间的关联
3. Association between a point mutation at the -743-bp region of the transthyretin (TTR) gene and familial vitreous amyloidosis [J] . X.M. Nie, S.J. Cai, B. Xie, Genetics and Molecular Research . 2016,第1期

机译：运甲状腺素蛋白（TTR）基因-743-bp区域的点突变与家族性玻璃体淀粉样变之间的关联
4. GENOTYPE-PHENOTYPE CORRELATIONS AND MANAGEMENT IN TRANSTHYRETIN (TTR) RELATED AMYLOIDOSIS [C] . Y. And International Symposium on Amyloidosis . 2005

机译：基因型 - 在Transthyretin（TTR）相关淀粉样蛋白病中的基因型 - 表型相关性和管理
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. Pressure-Volume Relationships in Patients With Transthyretin (ATTR) Cardiac Amyloidosis Secondary to V122I Mutations and Wild-Type Transthyretin Transthyretin Cardiac Amyloid Study (TRACS) [O] . Taslima Bhuiyan, Stephen Helmke, Ayan R. Patel, -1

机译：促进胰岛素（attr）心肌淀粉样蛋白患者患者的压力量关系伴有V122I突变和野生型Transthyretin Transthyretin心脏淀粉样蛋白研究（Tracs）
7. Dissecting the structure, thermodynamic stability, and aggregation properties of the A25T transthyretin (A25T-TTR) variant involved in leptomeningeal amyloidosis: identifying protein partners that co-aggregate during A25T-TTR fibrillogenesis in cerebrospinal fluid [O] . Azevedo Estefania P. C., Pereira Humberto DMuniz, Garratt Richard Charles, 2011

机译：剖析参与软脑膜淀粉样变性的A25T转甲状腺素蛋白（A25T-TTR）变体的结构，热力学稳定性和聚集特性：确定在脑脊液中A25T-TTR原纤维形成过程中共同聚集的蛋白伴侣

Sporadic transthyretin amyloidosis with a novel TTR gene mutation misdiagnosed as primary amyloidosis

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