Journals / Dicle Tıp Dergisi / 2014 / Cilt: 41 - Sayı: 2

Zoledronic acid treatment in an adult patient with Osteogenesis Imperfecta: A case report and review of the literature

Osteogenesis imperfektalı yetişkin hastada zoledronik asit tedavisi: Bir olgu ve literatür derlemesi

Pages
425–428
DOI
—
🏛️Bibliographic metadata and full text access for this article are provided via DergiPark.
DergiPark Record ↗
✨

AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

In conclusion, along with the literature, we present a case of zoledronic acid treatment in adult patient with OI.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Osteogenesis Imperfecta (OI) is a rare heritable condition characterized by bone fragility and reduced bone mass.
📊
Key Findings & Data:This causes decrease in bone mass of human body, bones become fragile and brittle, resulting in unreasonable multiple fractures.
💡
Conclusion & Impact:In conclusion, along with the literature, we present a case of zoledronic acid treatment in adult patient with OI.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Osteogenesis Imperfecta (OI) is a rare heritable condition characterized by bone fragility and reduced bone mass. This pathology is characterized by disruption of biosynthesis of Type I collagen, and production of limited amount of defective and imperfect collagens. This causes decrease in bone mass of human body, bones become fragile and brittle, resulting in unreasonable multiple fractures. Other manifestations include hyperextensibility of the joints, blue sclera, hearing loss, short stature and dentinogenesis imperfecta. Bisphosphonates are now the most widely used for the treatment of OI. In conclusion, along with the literature, we present a case of zoledronic acid treatment in adult patient with OI.

Özet

Osteogenesis İmperfecta (Oİ) düşük kemik kütlesi ve kemik kırılganlığı ile karakterize nadir görülen kalıtsal bir hastalıktır. Temel patoloji tip-1 kollajen biyosentezinin bozukluğu sonucunda kollajenin kusurlu ve eksik miktarda üretilmesidir. Bu nedenlerle kemik kütlesinde azalma, kı- rılgan ve gevrek kemik oluşumu sonucunda artmış multiple fraktürler görülür. Eklemlerin hiperekstansibilitesi, mavi sklera, işitme kaybı, kısa boy ve dentinogenesis imperfecta Oİda görülen diğer bulgulardır. Oİnın tedavisinde bifosfanatlar en sık kullanılan ilaçlardır. Biz de bu açıdan zoledronik asit ile tedavi edilen yetişkin Osteogenesis imperfektalı olguyu literatür eşliğinde sunuyoruz.

🔖

Cite This Article

YAZMALAR, L., BATMAZ, İ., DAĞLI, Z., HATTAPOĞLU, E., SARIYILDIZ, M. A. (2014). Zoledronic acid treatment in an adult patient with Osteogenesis Imperfecta: A case report and review of the literature. Dicle Tıp Dergisi, Cilt: 41 - Sayı: 2, 425–428. https://ajindex.com/articles/348903

📄 Full Text PDF Viewer

📄

PDF görüntüleyici hazırlanıyor...

References (15)

  1. Martin E, Shapiro JR. Osteogenesis Imperfecta: epidemiology and pathophysiology. Curr Osteoporos Rep 2007;5:91- 97
  2. Marini JC, Cabral WA, Barnes AM. Null mutations in LEPRE and CRTAP cause severe recessive osteogenesis imperfecta. Cell Tissue Res 2010;339:59-70
  3. Sillence D, Senn A, Danks D. Genetic heterogeneity In osteogenesis imperfecta. J Med Genet 1979;16:101-106
  4. Glorieux FH, Rauch F, Plotkin H et al: Type V osteogenesis imperfecta: A new form of brittle bone disease. J Bone Min Res 2000;15:1650-1658 5. Cabral W, Chang W, Barnes A. et al. Protyl 3-hydroxylase 1 deficiency causes a recessive metabolic disorder resembling lethal/severe osteogenesis imperfecta. Nat Gen 2007;39:359-365
  5. Cheung MS, Glorieux FH. Osteogenesis Imperfecta: update on presentation and management. Rev Endocr Metab Disord 2008;9:153-160
  6. Rebelo M, Lima J, Vieira JD, Costa JN. An unusual presentation of osteogenesis imperfecta type I. Int Med Case Rep J 2011;4:25-29
  7. Balkefors V, Mattsson E, Pernow Y, Sääf M. Functioning and quality of life in adults with mild-to-moderate osteogenesis imperfecta. Physiother Res Int 2013;18:203-211
  8. Rohrbach M, Giunta C. Recessive osteogenesis imperfecta: clinical, radiological, and molecular findings. Am J Med Genet C Semin Med Genet 2012;160C:175-189
  9. Rauch F, Travers R, Glorieux FH. Pamidronate in children with osteogenesis imperfecta: histomorphometric effects of long-term therapy. J Clin Endocrinol Metab 2006;91:511- 516
  10. Munns CF, Rajab MH, Hong J, et al. Acute phase response and mineral status following low dose intravenous zoledronic acid in children. Bone 2007;41:366-370
  11. Munns CF, Rauch F, Mier RJ, Glorieux FH. Respiratory distress with pamidronate treatment in infants with severe osteogenesis imperfecta. Bone 2004;35:231-234
  12. Land C, Rauch F, Glorieux FH. Cyclical intravenous pamidronate treatment affects metaphyseal modeling in growing patients with osteogenesis imperfecta. J Bone Miner Res 2006;21:374-379
  13. Migliorati CA, Siegel MA, Elting LS. Bisphosphonateassociated osteonecrosis: a long-term complication of bisphosphonate treatment. Lancet Oncol 2006;7:508-514
  14. Munns CF, Rauch F, Zeitlin L, Fassier F, Glorieux FH. Delayed osteotomy but not fracture healing in pediatric osteogenesis imperfecta patients receiving pamidronate. J Bone Miner Res 2004;19:1779-1786
  15. Wekre LL, Eriksen EF, Falch JA. Bone mass, bone markers and prevalence of fractures in adults with osteogenesis imperfecta. Ar