ID | 61035 |
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Author |
Nishizawa, Hitomi
Faculty of Health Sciences, Department of Medicine, Shinshu University
Sato, Yoshihiko
Department of Diabetes, Endocrinology and Metabolism, Division of Internal Medicine, Shinshu University School of Medicine, Matsumoto
Ishikawa, Masumi
Center for Medical Genetics, Shinshu University Hospital
Arakawa, Yuko
Department of Dentistry and Oral Surgery, Shinshu University School of Medicine
Iijima, Mari
Department of Clinical Nutrition, Shinshu University Hospital
Akiyama, Tomoyuki
Department of Child Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Science
Kaken ID
researchmap
Takano, Kyoko
Center for Medical Genetics, Shinshu University Hospital
Watanabe, Atsushi
Division of Clinical Genetics, Kanazawa University Hospital
Kosho, Tomoki
Center for Medical Genetics, Shinshu University Hospital
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Abstract | Hypophosphatasia (HPP) is a rare disorder resulting from biallelic loss-of-function variants or monoallelic dominant negative variants in the ALPL gene. We herein describe the clinical outcome of a 32-year-old woman with childhood-onset HPP caused by compound heterozygous variants in ALPL. Her chief complaints were severe musculoskeletal pain, muscle weakness, and impaired daily activities necessitating assistance in housework and child-rearing in addition to a history of early tooth loss and mildly short stature. Asfotase alfa therapy produced a remarkable increase in muscle strength and daily activities and markedly reduced musculoskeletal pain. Drug efficacy was clearly demonstrated through multiple test batteries (muscle strength test using microFET®2, six-minute walking test, Stair Climb Test, rising-from-floor-time test, and number-of-steps test using Actigraph®) currently adopted as standardized evaluations in Duchenne muscular dystrophy clinical trials since no test batteries for HPP have been established to date. These tests may also be promising for the assessment of HPP.
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Keywords | Hypophosphatasia
Alkaline phosphatase
Genetic disease
Asfotase alfa
Recombinant gene therapy
Motor function
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Published Date | 2020-12
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Publication Title |
Molecular Genetics and Metabolism Reports
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Volume | volume25
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Publisher | Elsevier
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Start Page | 100643
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ISSN | 2214-4269
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Content Type |
Journal Article
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language |
English
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OAI-PMH Set |
岡山大学
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Copyright Holders | © 2020 The Authors.
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File Version | publisher
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PubMed ID | |
DOI | |
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Related Url | isVersionof https://doi.org/10.1016/j.ymgmr.2020.100643
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License | http://creativecommons.org/licenses/by-nc-nd/4.0/
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