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Osteogenesis imperfecta

From Wikipedia
osteogenesis imperfecta
designated intractable/rare disease, rare disease, class of disease
Subclass ofosteochondrodysplasia, disease Edit
Health specialtymedical genetics Edit
Genetic associationCOL1A1 Edit
External data available at URLhttp://www.nanbyou.or.jp/entry/4567 Edit
ICD-9-CM756.51 Edit
NCI Thesaurus IDC26837, C99003 Edit

Osteogenesis imperfecta (IPA: /ˌɒstioʊˈdʒɛnəsɪs ˌɪmpɜːrˈfɛktə/;[1][2] OI), dem colloquially know as brittle bone disease, be a group of genetic disorders wey all result in bones wey dey break easily.[3]: 85 [4] De range of symptoms—on de skeleton as well as on de body ein oda organs—fi be mild to severe.[5]: 1512  Symptoms dem find insyd various types of OI dey include whites of de eye (sclerae) wey be blue instead, short stature, loose joints, hearing loss, breathing problems[6] den problems plus de teeth (dentinogenesis imperfecta).[5] Potentially life-threatening complications, all of wich cam be more common insyd more severe OI, dey include: tearing (dissection) of de major arteries, such as de aorta;[7]: 333 [8] pulmonary valve insufficiency secondary to distortion of de ribcage;[7]: 335–341 [9] den basilar invagination.[10]: 106–107 

De underlying mechanism usually be a problem plus connective tissue secof a lack of, anaa poorly formed, type I collagen.[5]: 1513  Insyd more dan 90% of cases, OI dey occur secof mutations insyd de COL1A1 anaa COL1A2 genes.[11] Dese mutations fi be hereditary insyd an autosomal dominant manner buh sanso fi occur spontaneously (de novo).[4][12] Der be four clinically defined types: type I, de least severe; type IV, moderately severe; type III, severe den progressively deforming; den type II, perinatally lethal.[4] As of September 2021, 19 different genes be known to cause de 21 documented genetically defined types of OI, chaw of wich be extremely rare wey dem be documented insyd a few individuals per.[13][14] Diagnosis often dey base on symptoms wey e fi be confirmed by collagen biopsy anaa DNA sequencing.[15]

Although der be no cure,[15] chaw cases of OI no get a major effect on life expectancy,[7]: 461 [12] death during kiddie time from am be rare,[15] den chaw adults plus OI fi achieve a significant degree of autonomy despite disability. Dey maintain a healthy lifestyle by exercising, eating a balanced diet sufficient insyd vitamin D den calcium, den dey avoid smoking fi help prevent fractures.[16] Genetic counseling fi be sought by those plus OI to prevent dema kiddies from inheriting de disorder from dem.[7]: 101  Treatment fi include acute care of broken bones, pain medication, physical therapy, mobility aids such as leg braces den wheelchairs,[15] vitamin D supplementation, den, especially insyd kiddie time, rodding surgery.[17] Rodding be an implantation of metal intramedullary rods along de long bones (such as de femur) in an attempt to strengthen dem.[15] Medical research sanso dey support de use of medications of de bisphosphonate class, such as pamidronate, to increase bone density.[18] Bisphosphonates be especially effective at increasing bone density insyd kiddies;[19] however, e be unclear if dem either increase quality of life anaa decrease de rate of fracture incidence.[20]

OI dey affect about one insyd 15,000 to 20,000 people per, wey dey make am a rare genetic disease.[21] Outcomes dey depend on de genetic cause of de disorder (ein type). Type I (de least severe) be de most common, plus oda types wey dey comprise a minority of cases.[12][22] Moderate-to-severe OI primarily dey affect mobility; if dem perform rodding surgery during kiddies, sam of those plus more severe types of OI fi gain de ability to walk.[23] De condition be described since ancient history.[24] Dem coin de Latinate term osteogenesis imperfecta by Dutch anatomist Willem Vrolik insyd 1849; dem translate literally, e dey mean "imperfect bone formation".[24][25]: 683 

References

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  1. ↑ "OSTEOGENESIS | Definition of OSTEOGENESIS by Oxford Dictionary on Lexico.com also meaning of OSTEOGENESIS". Lexico Dictionaries | English (in British English). Archived from the original on 2021-08-23. Retrieved 2026-04-07.
  2. ↑ "Definition of OSTEOGENESIS". www.merriam-webster.com (in English). Retrieved 2026-04-07.
  3. ↑ "Osteogenesis imperfecta : a translational approach to brittle bone disease | WorldCat.org". search.worldcat.org (in English). Retrieved 2026-04-07.
  4. 1 2 3 "Osteogenesis imperfecta". Genetics Home Reference. U.S. National Library of Medicine, National Institutes of Health. 2020-08-18. Archived from the original on 29 August 2021. Retrieved 2021-08-15.
  5. 1 2 3 Rowe DW (2008). "Osteogenesis imperfecta". Principles of bone biology (3rd ed.). Amsterdam: Elsevier. pp. 1511–1531. ISBN 978-0-12-373884-4. OCLC 267135745. Dentinogenesis imperfecta (DI) be most frequent insyd OI types III den IV, den overall, dey affect about 15% of OI patients among de different phenotypes.
  6. ↑ Lee B, Krakow D (July 2019). "Osteogenesis Imperfecta Overview". National Institute of Arthritis and Musculoskeletal and Skin Diseases. National Institutes of Health. Archived from the original on 2021-05-09. Retrieved 2021-08-21.
  7. 1 2 3 4 Shapiro JR, Byers PH, Glorieux FH, Sponseller PD (2014). Osteogenesis imperfecta: a translational approach to brittle bone disease (2nd ed.). London: Elsevier Inc. ISBN 978-0-12-397165-4. OCLC 876364090.
  8. ↑ McNeeley MF, Dontchos BN, Laflamme MA, Hubka M, Sadro CT (December 2012). "Aortic dissection in osteogenesis imperfecta: case report and review of the literature". Emergency Radiology. 19 (6): 553–556. doi:10.1007/s10140-012-1044-1. PMID 22527359. S2CID 11109481.
  9. ↑ LoMauro A, Pochintesta S, Romei M, D'Angelo MG, Pedotti A, Turconi AC, Aliverti A (2012-04-27). "Rib cage deformities alter respiratory muscle action and chest wall function in patients with severe osteogenesis imperfecta". PLOS ONE. 7 (4) e35965. Bibcode:2012PLoSO...735965L. doi:10.1371/journal.pone.0035965. PMC 3338769. PMID 22558284.
  10. ↑ Wallace MJ, Kruse RW, Shah SA (February 2017). "The Spine in Patients With Osteogenesis Imperfecta". The Journal of the American Academy of Orthopaedic Surgeons. 25 (2): 100–109. doi:10.5435/JAAOS-D-15-00169. PMID 28009707.
  11. ↑ Shapiro JR, Sponseller PD (2005-08-23). "10—Osteogenesis Imperfecta". In Kleerekoper M, Siris ES, McClung M (eds.). The Bone and Mineral Manual: A Practical Guide (in English). Elsevier Inc. p. 45. ISBN 978-0-08-047074-0. Archived from the original on 20 September 2021. Retrieved 17 September 2021.
  12. 1 2 3 Folkestad L, Hald JD, Canudas-Romo V, Gram J, Hermann AP, Langdahl B, et al. (December 2016). "Mortality and Causes of Death in Patients With Osteogenesis Imperfecta: A Register-Based Nationwide Cohort Study". Journal of Bone and Mineral Research. 31 (12): 2159–2166. doi:10.1002/jbmr.2895. PMID 27345018. S2CID 32196304.
  13. ↑ Marom R, Rabenhorst BM, Morello R (October 2020). "Osteogenesis imperfecta: an update on clinical features and therapies". European Journal of Endocrinology. 183 (4): R95 – R106. doi:10.1530/EJE-20-0299. PMC 7694877. PMID 32621590. Archived from the original on 17 August 2021. Retrieved 17 August 2021.
  14. ↑ van Dijk FS, Semler O, Etich J, Köhler A, Jimenez-Estrada JA, Bravenboer N, et al. (November 2020). "Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2". American Journal of Human Genetics. 107 (5): 989–999. doi:10.1016/j.ajhg.2020.09.009. hdl:1887/3185060. PMC 7675035. PMID 33053334.
  15. 1 2 3 4 5 Lee B, Krakow D (July 2019). "Osteogenesis Imperfecta Overview". National Institute of Arthritis and Musculoskeletal and Skin Diseases. National Institutes of Health. Archived from the original on 2021-05-09. Retrieved 2021-08-21.
  16. ↑ "What People With Osteogenesis Imperfecta Need To Know About Osteoporosis". Osteoporosis and Related Bone Diseases National Resource Center. National Institutes of Health. November 2018. Archived from the original on 18 March 2021. Retrieved 2021-09-18.
  17. ↑ Esposito P, Wallace MJ (2020), Kruse RW (ed.), "Osteogenesis Imperfecta Surgical Management of the Femur and Knee", Osteogenesis Imperfecta: A Case-Based Guide to Surgical Decision-Making and Care (in English), Springer International Publishing, pp. 147–182, doi:10.1007/978-3-030-42527-2_10, ISBN 978-3-030-42527-2, S2CID 219515805
  18. ↑ Harrington J, Sochett E, Howard A (December 2014). "Update on the evaluation and treatment of osteogenesis imperfecta". Pediatric Clinics of North America. 61 (6): 1243–1257. doi:10.1016/j.pcl.2014.08.010. PMID 25439022.
  19. ↑ Chevrel G, Schott AM, Fontanges E, Charrin JE, Lina-Granade G, Duboeuf F, et al. (February 2006). "Effects of oral alendronate on BMD in adult patients with osteogenesis imperfecta: a 3-year randomized placebo-controlled trial". Journal of Bone and Mineral Research. 21 (2): 300–306. doi:10.1359/JBMR.051015. PMID 16418786. S2CID 34089615.
  20. ↑ Dwan K, Phillipi CA, Steiner RD, Basel D (October 2016). "Bisphosphonate therapy for osteogenesis imperfecta". The Cochrane Database of Systematic Reviews. 2016 (10) CD005088. doi:10.1002/14651858.CD005088.pub4. PMC 6611487. PMID 27760454.
  21. ↑ Forlino A, Marini JC (April 2016). "Osteogenesis imperfecta". Lancet. 387 (10028): 1657–1671. doi:10.1016/S0140-6736(15)00728-X. PMC 7384887. PMID 26542481.
  22. ↑ Lindahl K, Åström E, Rubin CJ, Grigelioniene G, Malmgren B, Ljunggren Ö, Kindmark A (August 2015). "Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta". European Journal of Human Genetics. 23 (8): 1042–1050. doi:10.1038/ejhg.2015.81. PMC 4795106. PMID 25944380.
  23. ↑ Rodriguez Celin M, Kruger KM, Caudill A, Nagamani SC, Harris GF, Smith PA (2020-09-11). "A Multicenter Study of Intramedullary Rodding in Osteogenesis Imperfecta". JB & JS Open Access. 5 (3) e20.00031. doi:10.2106/JBJS.OA.20.00031. PMC 7489747. PMID 32984750.
  24. 1 2 Kelly EB (2012). Encyclopedia of Human Genetics and Disease. ABC-CLIO. p. 613. ISBN 978-0-313-38713-5. Archived from the original on 2017-11-05.
  25. ↑ Dang Do AN, Marini JC (2021-01-27). "Osteogenesis imperfecta". In Carey JC, Cassidy SB, Battaglia A, Viskochil D (eds.). Cassidy and Allanson's Management of Genetic Syndromes (in English). John Wiley & Sons. pp. 683–705. ISBN 978-1-119-43267-8. Archived from the original on 29 August 2021. Retrieved 29 August 2021.
[edit | edit source]
  • "Osteogenesis Imperfecta Overview". NIH Osteoporosis and Related Bone Diseases. National Resource Center, National Institutes of Health, U.S. Department of Health and Human Services. 8 May 2023. Archived from the original on 4 October 2017.
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