- 著者
- Taku Nakase Taro Yamashita Yoshimasa Matsuo Toshiya Nomura Keiko Sasada Teruaki Masuda Yohei Misumi Kotaro Takamatsu Seitaro Oda Yutaro Furukawa Konen Obayashi Hirotaka Matsui Yukio Ando Mitsuharu Ueda
- 出版者
- The Japanese Society of Internal Medicine
- 雑誌
- Internal Medicine (ISSN:09182918)
- 巻号頁・発行日
- pp.2456-18, (Released:2019-06-07)
- 参考文献数
- 17
- 被引用文献数
- 3
We report the clinical features of a patient with hereditary ATTR amyloidosis associated with a novel mutation (Y114S, p.Y134S). A 65-year-old Japanese man was admitted to our hospital after a 3-year history of progressive dyspnea on exertion. Five years previously, he presented dysesthesia in both hands caused by carpal tunnel syndrome. A genetic analysis revealed a base pair substitution of adenine to cytosine in the second codon of exon 4, residue 114, in the TTR gene (c.401A>C). The clinical characteristics were progressive cardiomyopathy with a poor vital prognosis, late onset, sporadic case, bilateral carpal tunnel syndrome, hypothyroidism, and small fiber neuropathy.