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Update on the management of hypophosphatasia
Hypophosphatasia is a rare inherited disease caused by a loss of function mutations in the gene that codes for the tissue-nonspecific alkaline phosphatase enzyme. It is autosomally inherited and at least 388 different genetic defects have been identified. The clinical presentation is variable from a...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
SAGE Publications
2019
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6676257/ https://www.ncbi.nlm.nih.gov/pubmed/31413732 http://dx.doi.org/10.1177/1759720X19863997 |
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| author | Choida, V. Bubbear, J. S. |
| author_facet | Choida, V. Bubbear, J. S. |
| author_sort | Choida, V. |
| collection | PubMed |
| description | Hypophosphatasia is a rare inherited disease caused by a loss of function mutations in the gene that codes for the tissue-nonspecific alkaline phosphatase enzyme. It is autosomally inherited and at least 388 different genetic defects have been identified. The clinical presentation is variable from a severe perinatal form, that is fatal if untreated, to adult-onset disease. This review covers the pathophysiology, diagnosis and current management option including the recently licensed enzyme replacement therapy asfotase alfa. |
| format | Online Article Text |
| id | pubmed-6676257 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2019 |
| publisher | SAGE Publications |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-66762572019-08-14 Update on the management of hypophosphatasia Choida, V. Bubbear, J. S. Ther Adv Musculoskelet Dis Review Hypophosphatasia is a rare inherited disease caused by a loss of function mutations in the gene that codes for the tissue-nonspecific alkaline phosphatase enzyme. It is autosomally inherited and at least 388 different genetic defects have been identified. The clinical presentation is variable from a severe perinatal form, that is fatal if untreated, to adult-onset disease. This review covers the pathophysiology, diagnosis and current management option including the recently licensed enzyme replacement therapy asfotase alfa. SAGE Publications 2019-08-01 /pmc/articles/PMC6676257/ /pubmed/31413732 http://dx.doi.org/10.1177/1759720X19863997 Text en © The Author(s), 2019 http://www.creativecommons.org/licenses/by-nc/4.0/ This article is distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 License (http://www.creativecommons.org/licenses/by-nc/4.0/) which permits non-commercial use, reproduction and distribution of the work without further permission provided the original work is attributed as specified on the SAGE and Open Access pages (https://us.sagepub.com/en-us/nam/open-access-at-sage). |
| spellingShingle | Review Choida, V. Bubbear, J. S. Update on the management of hypophosphatasia |
| title | Update on the management of hypophosphatasia |
| title_full | Update on the management of hypophosphatasia |
| title_fullStr | Update on the management of hypophosphatasia |
| title_full_unstemmed | Update on the management of hypophosphatasia |
| title_short | Update on the management of hypophosphatasia |
| title_sort | update on the management of hypophosphatasia |
| topic | Review |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6676257/ https://www.ncbi.nlm.nih.gov/pubmed/31413732 http://dx.doi.org/10.1177/1759720X19863997 |
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