野生型转甲状腺素蛋白引起的淀粉样多神经病。
Amyloid polyneuropathy caused by wild-type transthyretin.
作者信息
Lam Lynda, Margeta Marta, Layzer Robert
机构信息
Department of Neurology, Kaiser Permanente Medical Center, San Rafael, California, USA.
Department of Pathology, University of California, San Francisco, California, USA.
出版信息
Muscle Nerve. 2015 Jul;52(1):146-9. doi: 10.1002/mus.24563. Epub 2015 Mar 14.
INTRODUCTION
Amyloidosis derived from transthyretin (TTR) molecules is typically caused by mutations of the TTR gene.
METHODS
We describe an elderly patient with a severe length-dependent polyneuropathy that unexpectedly proved to be caused by wild-type transthyretin amyloidosis.
RESULTS
The diagnosis was made by muscle biopsy, because no amyloid deposits were found in the biopsied nerve segment. Most cases of wild-type transthyretin amyloidosis occur in elderly patients with cardiomyopathy, but a few cases of polyneuropathy have been reported.
CONCLUSIONS
This entity is especially noteworthy in light of emerging treatment options for hereditary transthyretin amyloidosis, which are likely to also be beneficial in wild-type disease.
引言
源自转甲状腺素蛋白（TTR）分子的淀粉样变性通常由TTR基因突变引起。
方法
我们描述了一位患有严重长度依赖性多发性神经病的老年患者，意外地发现其病因是野生型转甲状腺素蛋白淀粉样变性。
结果
诊断通过肌肉活检做出，因为在活检的神经节段中未发现淀粉样沉积物。大多数野生型转甲状腺素蛋白淀粉样变性病例发生在患有心肌病的老年患者中，但也有少数多发性神经病的病例报道。
结论
鉴于遗传性转甲状腺素蛋白淀粉样变性新出现的治疗选择，这一实体尤其值得关注，这些治疗方法可能对野生型疾病也有益。
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