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

Yıl 2014, Cilt: 41 Sayı: 2, 425 - 428, 01.06.2014

Levent Yazmalar İbrahim Batmaz Abdullah Zübeyr Dağlı Erkam Hattapoğlu Mustafa Akif Sarıyıldız

https://doi.org/10.5798/diclemedj.0921.2014.02.0446

Öz

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.

Anahtar Kelimeler

Osteogenesis imperfecta, osteoporosis, zoledronic acid

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

Öz

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, kırılgan ve gevrek kemik oluşumu sonucunda artmış multiple fraktürler görülür. Eklemlerin hiperekstansibilitesi, mavi sklera, işitme kaybı, kısa boy ve dentinogenesis imperfecta Oİ\'da görülen diğer bulgulardır. Oİ\'nın tedavisinde bifosfanatlar en sık kullanılan ilaçlardır. Biz de bu açıdan zoledronik asit ile tedavi edilen yetişkin Osteogenesis imperfektalı olguyu literatür eşliğinde sunuyoruz.

Anahtar Kelimeler

Osteogenesis imperfekta, osteoporoz, zoledronik asit

Kaynakça

• Martin E, Shapiro JR. Osteogenesis Imperfecta: epidemiol- ogy and pathophysiology. Curr Osteoporos Rep 2007;5:91- 97.
• Marini JC, Cabral WA, Barnes AM. Null mutations in LEP- RE and CRTAP cause severe recessive osteogenesis imper- fecta. Cell Tissue Res 2010;339:59-70.
• Sillence D, Senn A, Danks D. Genetic heterogeneity In os- teogenesis imperfecta. J Med Genet 1979;16:101-106.
• 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
• Cabral W, Chang W, Barnes A. et al. Protyl 3-hydroxylase 1 deficiency causes a recessive metabolic disorder re- sembling lethal/severe osteogenesis imperfecta. Nat Gen 2007;39:359-365.
• Cheung MS, Glorieux FH. Osteogenesis Imperfecta: update on presentation and management. Rev Endocr Metab Dis- ord 2008;9:153-160.
• Rebelo M, Lima J, Vieira JD, Costa JN. An unusual presenta- tion of osteogenesis imperfecta type I. Int Med Case Rep J 2011;4:25-29.
• 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.
• Rohrbach M, Giunta C. Recessive osteogenesis imperfecta: clinical, radiological, and molecular findings. Am J Med Genet C Semin Med Genet 2012;160C:175-189.
• 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.
• Munns CF, Rajab MH, Hong J, et al. Acute phase response and mineral status following low dose intravenous zole- dronic acid in children. Bone 2007;41:366-370.
• Munns CF, Rauch F, Mier RJ, Glorieux FH. Respiratory distress with pamidronate treatment in infants with severe osteogenesis imperfecta. Bone 2004;35:231-234.
• Land C, Rauch F, Glorieux FH. Cyclical intravenous pami- dronate treatment affects metaphyseal modeling in growing patients with osteogenesis imperfecta. J Bone Miner Res 2006;21:374-379.
• Migliorati CA, Siegel MA, Elting LS. Bisphosphonate- associated osteonecrosis: a long-term complication of bisphosphonate treatment. Lancet Oncol 2006;7:508-514.
• Munns CF, Rauch F, Zeitlin L, Fassier F, Glorieux FH. De- layed osteotomy but not fracture healing in pediatric osteo- genesis imperfecta patients receiving pamidronate. J Bone Miner Res 2004;19:1779-1786.
• Wekre LL, Eriksen EF, Falch JA. Bone mass, bone mark- ers and prevalence of fractures in adults with osteogenesis imperfecta. Arch Osteoporos. 2011;6:31-38.
• Glorieux FH, Bishop NJ, Plotkin H, et al. Cyclic adminis- tration of pamidronate in children with severe osteogenesis imperfecta. N Engl J Med 1998;339:947-952.
• Montpetit K, Plotkin H, Rauch F, et al. Rapid increase in grip force after start of pamidronate therapy in children and adolescents with severe osteogenesis imperfecta. Pediatrics 2003;111:e601-3.
• Zeitlin L, Rauch F, Plotkin H, Glorieux FH. Height and weight development during long-term therapy with cycli- cal intravenous pamidronate in children and adolescents with osteogenesis imperfecta types I, III and IV. Pediatrics 2003;111:1030-1036.
• Poyrazoglu S, Gunoz H, Darendeliler F, et al. Successful results of pamidronate treatment in children with osteo- genesis imperfecta with emphasis on the interpretation of bone mineral density for local standards. J Pediatr Orthop 2008;28:483-487.