Osteogenesis imperfecta: diagnosis and treatment
- PMID: 28863000
- DOI: 10.1097/MED.0000000000000367
Osteogenesis imperfecta: diagnosis and treatment
Abstract
Purpose of review: Here we summarize the diagnosis of osteogenesis imperfecta, discuss newly discovered genes involved in osteogenesis imperfecta, and review the management of this disease in children and adults.
Recent findings: Mutations in the two genes coding for collagen type I, COL1A1 and COL1A2, are the most common cause of osteogenesis imperfecta. In the past 10 years, defects in at least 17 other genes have been identified as responsible for osteogenesis imperfecta phenotypes, with either dominant or recessive transmission. Intravenous bisphosphonate infusions are the most widely used medical treatment. This has a marked effect on vertebra in growing children and can lead to vertebral reshaping after compression fractures. However, bisphosphonates are less effective for preventing long-bone fractures. At the moment, new therapies are under investigation.
Summary: Despite advances in the diagnosis and treatment of osteogenesis imperfecta, more research is needed. Bisphosphonate treatment decreases long-bone fracture rates, but such fractures are still frequent. New antiresorptive and anabolic agents are being investigated but efficacy and safety of these drugs, especially in children, need to be better established before they can be used in clinical practice.
Similar articles
-
Osteogenesis imperfecta in children and adolescents-new developments in diagnosis and treatment.Osteoporos Int. 2016 Dec;27(12):3427-3437. doi: 10.1007/s00198-016-3723-3. Epub 2016 Aug 5. Osteoporos Int. 2016. PMID: 27492436 Review.
-
Osteogenesis imperfecta: questions and answers.Curr Opin Pediatr. 2009 Dec;21(6):709-16. doi: 10.1097/MOP.0b013e328332c68f. Curr Opin Pediatr. 2009. PMID: 19907330 Review.
-
Decreased fracture rate, pharmacogenetics and BMD response in 79 Swedish children with osteogenesis imperfecta types I, III and IV treated with Pamidronate.Bone. 2016 Jun;87:11-8. doi: 10.1016/j.bone.2016.02.015. Epub 2016 Mar 5. Bone. 2016. PMID: 26957348
-
Long-term follow-up in osteogenesis imperfecta type VI.Osteoporos Int. 2017 Oct;28(10):2975-2983. doi: 10.1007/s00198-017-4141-x. Epub 2017 Jul 9. Osteoporos Int. 2017. PMID: 28689307
-
Osteogenesis imperfecta.Nat Rev Dis Primers. 2017 Aug 18;3:17052. doi: 10.1038/nrdp.2017.52. Nat Rev Dis Primers. 2017. PMID: 28820180 Review.
Cited by
-
Osteoclast indices in osteogenesis imperfecta: systematic review and meta-analysis.JBMR Plus. 2024 Aug 21;8(11):ziae112. doi: 10.1093/jbmrpl/ziae112. eCollection 2024 Nov. JBMR Plus. 2024. PMID: 39372603 Free PMC article.
-
Evaluation of functioning and associated factors in children and adolescents with osteogenesis imperfecta.Rev Paul Pediatr. 2024 Sep 9;43:e2023193. doi: 10.1590/1984-0462/2025/43/2023193. eCollection 2024. Rev Paul Pediatr. 2024. PMID: 39258640 Free PMC article.
-
A Successful Laparoscopic Appendectomy for an Adult Male Patient with Osteogenesis Imperfecta.Eur J Case Rep Intern Med. 2024 Aug 19;11(9):004738. doi: 10.12890/2024_004738. eCollection 2024. Eur J Case Rep Intern Med. 2024. PMID: 39247237 Free PMC article.
-
Lumbar Epidural versus Caudal Epidural for Postoperative Analgesia After Lower Extremity Osteotomy Surgery in Pediatric Patients with Osteogenesis Imperfecta: A Propensity-Matched Cohort Analysis in a Single-Center Over 9 Years.J Pain Res. 2024 Aug 13;17:2645-2656. doi: 10.2147/JPR.S466745. eCollection 2024. J Pain Res. 2024. PMID: 39155955 Free PMC article.
-
'BLUES' procedure for assessing the blue level of the sclera in Osteogenesis Imperfecta.Orphanet J Rare Dis. 2024 Apr 27;19(1):176. doi: 10.1186/s13023-024-03192-z. Orphanet J Rare Dis. 2024. PMID: 38678283 Free PMC article.
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Other Literature Sources
Medical
Research Materials
Miscellaneous
