2020年3月15日
Effect of Asfotase Alfa on Muscle Weakness in a Japanese Adult Patient of Hypophosphatasia with Low ALP Levels
Internal Medicine
- 巻
- 59
- 号
- 6
- 開始ページ
- 811
- 終了ページ
- 815
- 記述言語
- 英語
- 掲載種別
- 研究論文(学術雑誌)
- DOI
- 10.2169/internalmedicine.3298-19
- 出版者・発行元
- Japanese Society of Internal Medicine
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.
- リンク情報
-
- DOI
- https://doi.org/10.2169/internalmedicine.3298-19
- Web of Science
- https://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=JSTA_CEL&SrcApp=J_Gate_JST&DestLinkType=FullRecord&KeyUT=WOS:000521137500009&DestApp=WOS_CPL
- URL
- https://www.jstage.jst.go.jp/article/internalmedicine/59/6/59_3298-19/_pdf
- ID情報
-
- DOI : 10.2169/internalmedicine.3298-19
- ISSN : 0918-2918
- eISSN : 1349-7235
- Web of Science ID : WOS:000521137500009