Osteogenezis İmperfektalı Hastalarda Bifosfonatların Etkinliği

Öz

Giriş: Osteogenezis imperfekta Oİ kollagen sentez yeteneğindeki defekt sonucu kemik kırılganlığında artışla sonuçlanan genetik bir hastalıktır. Çocuklardaki Oİ tedavisinde bifosfonatlar uzun süredir kullanılmaktadır. Bu yazıda Oİ ile izlenen olguların özellikleri ve bifosfonat tedavisine yanıt değerlendirilmiştir. Gereç ve Yöntem: Kliniğimizde izlenen Oİ’lı 21 olgunun dosyaları retrospektif olarak değerlendirildi, klinik tiplendirme yapıldı. Yaş, cinsiyet, oksolojik veriler ve kemik mineral yoğunluğu KMY değerlendirildi, alendronat ve pamidronat tedavilerinin etkinliği kıyaslandı. Tedavi öncesi ve sonrası kırık sayıları değerlendirildi. Bulgular: Olguların 12’si erkek %57,1 , 9’u kız %42,9 , ortanca yaş 5,64 yıl idi. Sillence sınıflamasına göre 10 olgu Tip I, 9 olgu Tip III, 2 olgu Tip IV idi. Tanı 10 olguda tekrarlayan kırıklar, 5 olguda patolojik tek kırık, 2 olguda doğumda alt ekstremitelerde kırıklar, 2 olguda mavi sklera ve kırık öyküsü, 1 olguda annede Oİ varlığı ile mavi sklera ve KMY düşüklüğü, 1 olguda kemik deformiteleri, aile öyküsü ve mavi sklera ile konuldu. Pamidronat 13 olguda, alendronat ise 8 olguda kullanıldı. Bazal DEXA z skoru -4,00 iken, 12 aylık tedavi sonrasında -2,80 idi p

Anahtar Kelimeler

• Osteogenezis imperfekta,kırık,bifosfonat,kollajen

Efficacy of Biphosphonates in Patients with Osteogenesis Imperfecta

Abstract

Introduction: Osteogenesis imperfecta OI is a genetic disorder resulting in increased bone fragility due to defective collagen synthesis. Biphosfonates have been used in children with OI. Herein, we aimed to present clinical and laboratory features of the patients with OI and to evaluate response to biphosphonate therapy. Materials and Methods: The data of 21 patients with OI were evaluated retrospectively and clinical classification was made. Age, gender, auxological data, bone mineral density BMD , and bone fragility before and after therapy were evaluated. Efficacy of alendronate and pamidronate on the bone density were compared. Results: Of the 21 patients, 12 were male 57.1% , 9 were female 42.9% and median age was 5.64 years. According the Sillence classification, 10 patients were classified as type I, 9 cases as type III, and 2 cases as type IV. Diagnoses were made by multiple fractures 10 cases , pathological sole fracture 5 cases , blue sclera with history of fracture 2 cases , maternal OI, blue sclera, and decreased BMD 1 case , bone deformity, family history, and blue sclera 1 case . Pamidronate 13 cases and alendronate 8 cases were given as medical therapy. Basal DEXA z-score increased from -4.00 at baseline to -2.80 after 12 months of therapy p

Keywords

• Osteogenesis imperfecta,fracture,biphosfonates,collagen

Kaynakça

1. 1. Sillence DO, Senn A, Danks DM. Genetic heterogeneity in osteogenesis imperfecta. J Med Genet 1979;16:101-16.
2. 2. Cheung MS, Glorieux FH. Osteogenesis Imperfecta: update on presentation and management. Rev Endocr Metab Disord 2008;9:153-60.
3. 3. Yamashita S. [Bisphosphonates and other new therapeutic agents for the treatmednt of osteogenesis imperfecta]. Clin Calcium 2009;19:253-7.
4. 4. Kuczmarski RJ, Ogden CL, Guo SS, Grummer-Strawn LM, Flegal KM, Mei Z et al. 2000 CDC growth charts for the United States: Methods and development. National Center for Health Statistics. Vital Health Stat 11 2002;246:1-190.
5. 5. Goksen D, Darcan S, Coker M, Kose T. Bone mineral density of healthy Turkish children and adolescents. J Clin Densitom 2006;9:84-90.
6. 6. Forin V, Arabi A, Guigonis V, Filipe G, Bensman A, Roux C. Benefits of pamidronate in children with osteogenesis imperfecta: an open prospective study. Joint Bone Spine 2005;72:313-8.
7. 7. Rauch F, Glorieux FH. Osteogenesis imperfecta. Lancet 2004;363:1377-85.
8. 8. Vyskocil V, Pikner R, Kutílek S. Effect of alendronate therapy in children with osteogenesis imperfecta. Joint Bone Spine 2005;72:416-23.

9. 9. Chien YH, Chu SY, Hsu CC, Hwu WL. Pamidronate treatment of severe osteogenesis imperfecta in anewborn infant. J Inherit Metab Dis 2002;25:593-5.
10. 10. Gökşen D, Coker M, Darcan S, Köse T, Kara S. Low-dose intravenous pamidronate treatment in osteogenesis imperfecta. Turk J Pediatr 2006;48:124-9.
11. 11. Andiran N, Alikasifoglu A, Gonc N, Ozon A, Kandemir N, Yordam N. Cyclic pamidronate therapy in children with osteogenesis imperfecta: results of treatment and follow-up after discontinuation. J Pediatr Endocrinol Metab 2008;21:63-72.
12. 12. Adiyaman P, Ocal G, Berberoğlu M, Evliyaoğlu O, Aycan Z, Cetinkaya E. The clinical and radiological assessment of cyclic intravenous pamidronate administration in children with osteogenesis imperfecta. Turk J Pediatr 2004;46:322-8.
13. 13. Akcay T, Turan S, Guran T, Bereket A. Alendronate treatment in children with osteogenesis imperfecta. Indian Pediatr 2008;45:105-9.
14. 14. DiMeglio LA, Peacock M. Two-year clinical trial of oral alendronate versus intravenous pamidronate in children with osteogenesis imperfecta. J Bone Miner Res 2006;21:132-40.
15. 15. Rauch F, Munns C, Land C, Glorieux FH. Pamidronate in children and adolescents with osteogenesis imperfecta: effect of treatment discontinuation. J Clin Endocrinol Metab 2006;91:1268-74.
16. 16. Poyrazoglu S, Gunoz H, Darendeliler F, Bas F, Tutunculer F, Eryilmaz SK et al. Successful results of pamidronate treatment in children with osteogenesis imperfecta with emphasis on the interpretation of bone mineral density for local standards. J Pediatr Orthop 2008;28:483-7.