Oginezawa Shinya, Ishihara Tomohiko, Iwafuchi Yohei, Hatano Yuya, Kashimura Ken, Onodera Osamu
Department of Neurology, Brain Research Institute, Niigata University.
Department of Cardiology, Niigata University Medical and Dental Hospital.
Rinsho Shinkeigaku. 2022 May 31;62(5):375-379. doi: 10.5692/clinicalneurol.cn-001693. Epub 2022 Apr 26.
We report the case of a 65-year-old man who gradually developed numbness in both hands, lower limb muscle weakness and atrophy, and orthostatic hypotension over two and a half years. These symptoms indicated hereditary ATTR amyloidosis (ATTRv amyloidosis), and the final diagnosis was established through proof of TTR gene mutation (V30M). We initiated patisiran therapy, and a continuous 6-minute walking test performed 3 weeks from the start of therapy demonstrated improvement in the walking distance. This is a single case report showing the improvement in the motor and sensory function on administration of patisiran monotherapy from an early stage.
我们报告了一例65岁男性病例，该患者在两年半的时间里逐渐出现双手麻木、下肢肌肉无力和萎缩以及体位性低血压。这些症状提示遗传性转甲状腺素蛋白淀粉样变性（ATTRv淀粉样变性），最终通过证实转甲状腺素蛋白（TTR）基因突变（V30M）得以确诊。我们开始使用帕替西兰进行治疗，治疗开始3周后进行的连续6分钟步行试验显示步行距离有所改善。这是一例单病例报告，表明早期给予帕替西兰单药治疗可改善运动和感觉功能。
