Osteogenesis imperfecta: from diagnosis and multidisciplinary treatment to future perspectives.
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Version: Final published version
License: Not specified
State: Public
Version: Final published version
License: Not specified
Serval ID
serval:BIB_CFDB8F834667
Type
Article: article from journal or magazin.
Publication sub-type
Review (review): journal as complete as possible of one specific subject, written based on exhaustive analyses from published work.
Collection
Publications
Institution
Title
Osteogenesis imperfecta: from diagnosis and multidisciplinary treatment to future perspectives.
Journal
Swiss medical weekly
ISSN
1424-3997 (Electronic)
ISSN-L
0036-7672
Publication state
Published
Issued date
2016
Peer-reviewed
Oui
Volume
146
Pages
w14322
Language
english
Notes
Publication types: Journal Article
Publication Status: epublish
Publication Status: epublish
Abstract
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.
Keywords
Bone Density Conservation Agents/therapeutic use, Denosumab/therapeutic use, Diphosphonates/therapeutic use, Fractures, Bone/prevention & control, Humans, Osteogenesis Imperfecta/diagnosis, Osteogenesis Imperfecta/drug therapy, Osteogenesis Imperfecta/surgery, Osteogenesis Imperfecta/therapy, Physical Therapy Modalities, Teriparatide/therapeutic use
Pubmed
Open Access
Yes
Create date
01/07/2016 9:25
Last modification date
21/11/2022 8:09