著者

Hiroyuki Koyama Satoshi Yasuda Shota Kakoi Yasuhisa Ohata Yuki Shimizu Chie Hasegawa Akiko Hayakawa Tomoyuki Akiyama Takashi Yagi Daisuke Aotani Kenro Imaeda Keiichi Ozono Hiromi Kataoka Tomohiro Tanaka

出版者

The Japanese Society of Internal Medicine

雑誌

Internal Medicine (ISSN:09182918)

巻号頁・発行日

pp.3298-19, (Released:2019-11-29)

参考文献数

24

被引用文献数

8

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A 40-year-old Japanese woman presented to our hospital with general fatigue and muscle weakness. She had a history of premature loss of deciduous teeth at 4 years old, her serum alkaline phosphatase (ALP) activity was as low as 91 U/L, and radiologic studies revealed thoracic deformity and sacroiliac calcification. Genetic sequencing revealed a heterozygous c.1559delT mutation in the tissue non-specific alkaline phosphatase gene (ALPL). Based on these findings, she was diagnosed with hypophosphatasia (HPP), and treatment with asfotase alfa, a recombinant human tissue-nonspecific alkaline phosphatase (TNSALP), was initiated. After six months of treatment with asfotase alfa, improvements were observed in the SF-36 score, six-minute walk distance, and grasping power. Although the overdiagnosis needs to be avoided, HPP should be considered in patients with undiagnosed musculoskeletal symptoms and a low serum ALP activity.