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.