Effect of Asfotase Alfa on Muscle Weakness in a Japanese Adult Patient of Hypophosphatasia with Low ALP Levels
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- Koyama Hiroyuki
- Department of Gastroenterology and Metabolism, Nagoya City University Graduate School of Medical Science, Japan
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- Yasuda Satoshi
- Department of Gastroenterology and Metabolism, Nagoya City University Graduate School of Medical Science, Japan
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- Kakoi Shota
- Department of Gastroenterology and Metabolism, Nagoya City University Graduate School of Medical Science, Japan
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- Ohata Yasuhisa
- Department of Pediatrics, Osaka University Graduate School of Medicine, Japan
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- Shimizu Yuki
- Department of Gastroenterology and Metabolism, Nagoya City University Graduate School of Medical Science, Japan
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- Hasegawa Chie
- Department of Gastroenterology and Metabolism, Nagoya City University Graduate School of Medical Science, Japan
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- Hayakawa Akiko
- Department of Gastroenterology and Metabolism, Nagoya City University Graduate School of Medical Science, Japan
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- Akiyama Tomoyuki
- Department of Child Neurology, Okayama University Graduate School of Medicine, Japan
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- Yagi Takashi
- Department of Gastroenterology and Metabolism, Nagoya City University Graduate School of Medical Science, Japan
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- Aotani Daisuke
- Department of Gastroenterology and Metabolism, Nagoya City University Graduate School of Medical Science, Japan
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- Imaeda Kenro
- Department of Gastroenterology and Metabolism, Nagoya City University Graduate School of Medical Science, Japan Department of Endocrinology and Diabetes, Nagoya City West Medical Center, Japan
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- Ozono Keiichi
- Department of Pediatrics, Osaka University Graduate School of Medicine, Japan
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- Kataoka Hiromi
- Department of Gastroenterology and Metabolism, Nagoya City University Graduate School of Medical Science, Japan
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- Tanaka Tomohiro
- Department of Gastroenterology and Metabolism, Nagoya City University Graduate School of Medical Science, Japan
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Abstract
<p>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. </p>
Journal
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- Internal Medicine
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Internal Medicine 59 (6), 811-815, 2020-03-15
The Japanese Society of Internal Medicine
