Osteogenesis imperfecta: from diagnosis and multidisciplinary treatment to future perspectives
Osteogenesis imperfecta is an inherited connective tissue disorder with wide phenotypic and molecular heterogeneity. A common issue associated with the molecular abnormality is a disturbance in bone matrix synthesis and homeostasis inducing bone fragility. In very early life, this can lead to mult...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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SMW supporting association (Trägerverein Swiss Medical Weekly SMW)
2016-06-01
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| Series: | Swiss Medical Weekly |
| Subjects: | |
| Online Access: | https://www.smw.ch/index.php/smw/article/view/2195 |
| _version_ | 1826995807255003136 |
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| author | Aline Bregou Bourgeois Bérengère Aubry-Rozier Luisa Bonafé Lee Laurent-Applegate Dominique P Pioletti Pierre-Yves Zambelli |
| author_facet | Aline Bregou Bourgeois Bérengère Aubry-Rozier Luisa Bonafé Lee Laurent-Applegate Dominique P Pioletti Pierre-Yves Zambelli |
| author_sort | Aline Bregou Bourgeois |
| collection | DOAJ |
| description |
Osteogenesis imperfecta is an inherited connective tissue disorder with wide phenotypic and molecular heterogeneity. A common issue associated with the molecular abnormality is a disturbance in bone matrix synthesis and homeostasis inducing bone fragility. In very early life, this can lead to multiple fractures and progressive bone deformities, including long bone bowing and scoliosis. Multidisciplinary management improves quality of life for patients with osteogenesis imperfecta. It consists of physical therapy, medical treatment and orthopaedic surgery as necessary. Medical treatment consists of bone-remodelling drug therapy. Bisphosphonates are widely used in the treatment of moderate to severe osteogenesis imperfecta, from infancy to adulthood. Other more recent drug therapies include teriparatide and denosumab. All these therapies target the symptoms and have effects on the mechanical properties of bone due to modification of bone remodelling, therefore influencing skeletal outcome and orthopaedic surgery. Innovative therapies, such as progenitor and mesenchymal stem cell transplantation, targeting the specific altered pathway rather than the symptoms, are in the process of development.
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| first_indexed | 2024-04-13T03:46:26Z |
| format | Article |
| id | doaj.art-04f9a146d1d1456c90600110f75e0c39 |
| institution | Directory Open Access Journal |
| issn | 1424-3997 |
| language | English |
| last_indexed | 2025-02-18T09:37:43Z |
| publishDate | 2016-06-01 |
| publisher | SMW supporting association (Trägerverein Swiss Medical Weekly SMW) |
| record_format | Article |
| series | Swiss Medical Weekly |
| spelling | doaj.art-04f9a146d1d1456c90600110f75e0c392024-11-02T17:27:04ZengSMW supporting association (Trägerverein Swiss Medical Weekly SMW)Swiss Medical Weekly1424-39972016-06-01146252610.4414/smw.2016.14322Osteogenesis imperfecta: from diagnosis and multidisciplinary treatment to future perspectivesAline Bregou BourgeoisBérengère Aubry-RozierLuisa BonaféLee Laurent-ApplegateDominique P PiolettiPierre-Yves Zambelli Osteogenesis imperfecta is an inherited connective tissue disorder with wide phenotypic and molecular heterogeneity. A common issue associated with the molecular abnormality is a disturbance in bone matrix synthesis and homeostasis inducing bone fragility. In very early life, this can lead to multiple fractures and progressive bone deformities, including long bone bowing and scoliosis. Multidisciplinary management improves quality of life for patients with osteogenesis imperfecta. It consists of physical therapy, medical treatment and orthopaedic surgery as necessary. Medical treatment consists of bone-remodelling drug therapy. Bisphosphonates are widely used in the treatment of moderate to severe osteogenesis imperfecta, from infancy to adulthood. Other more recent drug therapies include teriparatide and denosumab. All these therapies target the symptoms and have effects on the mechanical properties of bone due to modification of bone remodelling, therefore influencing skeletal outcome and orthopaedic surgery. Innovative therapies, such as progenitor and mesenchymal stem cell transplantation, targeting the specific altered pathway rather than the symptoms, are in the process of development. https://www.smw.ch/index.php/smw/article/view/2195bisphophonatesmesenchymal stem cellosteogenesis imperfectatelescopic rods. |
| spellingShingle | Aline Bregou Bourgeois Bérengère Aubry-Rozier Luisa Bonafé Lee Laurent-Applegate Dominique P Pioletti Pierre-Yves Zambelli Osteogenesis imperfecta: from diagnosis and multidisciplinary treatment to future perspectives Swiss Medical Weekly bisphophonates mesenchymal stem cell osteogenesis imperfecta telescopic rods. |
| title | Osteogenesis imperfecta: from diagnosis and multidisciplinary treatment to future perspectives |
| title_full | Osteogenesis imperfecta: from diagnosis and multidisciplinary treatment to future perspectives |
| title_fullStr | Osteogenesis imperfecta: from diagnosis and multidisciplinary treatment to future perspectives |
| title_full_unstemmed | Osteogenesis imperfecta: from diagnosis and multidisciplinary treatment to future perspectives |
| title_short | Osteogenesis imperfecta: from diagnosis and multidisciplinary treatment to future perspectives |
| title_sort | osteogenesis imperfecta from diagnosis and multidisciplinary treatment to future perspectives |
| topic | bisphophonates mesenchymal stem cell osteogenesis imperfecta telescopic rods. |
| url | https://www.smw.ch/index.php/smw/article/view/2195 |
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