Cardiomyopathy in a Japanese family with the Glu61Lys transthyretin variant: a new phenotype
Cardiomyopathy in a Japanese family with the Glu61Lys transthyretin variant: a new phenotype
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DOI：
10.1080/13506120902879335
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发表时间：
2009-01-01
影响因子：
5.5
通讯作者：
Nakagawa, Masanori
中科院分区：
文献类型：
--
作者：
Noto, Yuichi;Tokuda, Takahiko;Nakagawa, Masanori
我们报告了一个由ATTRGlu61Lys引起的转甲状腺素(TTR)淀粉样变性的日本家庭，其与进行性心肌病、周围神经病变和双侧腕管综合征相关。与ATTRGlu61Lys相关的淀粉样多发性神经病是由Shiomi等人在一个日本家系中描述的(Biochem BiPhys Commun 1993；194：1090-1096)，该家系的主要临床特征是迟发的感觉运动性多神经病和严重的自主神经障碍。然而，目前还没有关于心脏受累或腕管综合征的描述。我们在这里介绍的日本家系以严重的心肌病为主要症状，这是一种伴有ATTRGlu61Lys的TTR淀粉样变性的新表型。这份报告和之前的一份报告一起，展示了ATTRGlu61Lys引起的TTR淀粉样变性的临床多样性。
We report a Japanese family with transthyretin (TTR) amyloidosis caused by ATTRGlu61Lys that was associated with progressive cardiomyopathy, peripheral neuropathy, and bilateral carpal tunnel syndrome. Amyloidotic polyneuropathy in association with ATTRGlu61Lys was previously described in a Japanese family by Shiomi et al., (Biochem Biophys Res Commun 1993; 194: 1090-1096), and the main clinical features of that family were late-onset sensorimotor polyneuropathy and severe autonomic disturbance. However, there have been no descriptions of either cardiac involvement or carpal tunnel syndrome. The Japanese family, we present here, had severe cardiomyopathy as a cardinal symptom, which is a new phenotype of the TTR amyloidosis with ATTRGlu61Lys. This report, alongwith a previous one, demonstrates the clinical variety of TTR amyloidosis caused by ATTRGlu61Lys.