Osteogenezis imperfektalı hastalarda bifosfonatların etkinliği
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Date
2011-09-19
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Uludağ Üniversitesi
Abstract
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<0,001). Alendronat ve pamidronat alan iki grupta DEXA z-skorundaki artış açısından anlamlı fark yoktu. Bir yıllık bifosfonat tedavisi sonrasında boy SDS -2,55’den -1,74’e (p=0,433), ağırlık SDS ise -1,79’dan -0,51’e yükseldi (p=0,042). Tedaviden önce ortalama kırık sayısı 2,14/yıl iken, tedaviden sonra 0,62/yıl olarak saptandı (p<0,001). Sonuç: Üç aylık pamidronat veya günlük alendronat tedavisinin Oİ’li hastalarda etkili ve güvenli bir tedavi yöntemi olduğu, klinik semptomları ve kırık sıklığını azalttığı, önemli yan etki olmadan KMY’nu artırdığı saptanmıştır. Ancak tedavinin ne kadar süreceği ve bifosfonatların olası kronik dönem yan etkileri hala tartışılmaktadır.
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<0.001). When the two therapy models were compared, there was no statistical difference. After one year of therapy, height SDS increased from -2.55 to -1.74 (p=0.433), and weight SDS increased from -1.79 to -0.51 (p=0.042). Annual fracture frequency decreased significantly from 2.14 to 0.62 per year (p<0.001). Conclusions: Three monthly pamidronate or daily alendronate therapy is effective to reduce clinical symptoms and annual fracture rate. Both biphosphonates enhance BMD safely without remarkable side effects. However, duration of therapy and possible side effects in the long run are still unclear and further research in larger groups is necessary.
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<0.001). When the two therapy models were compared, there was no statistical difference. After one year of therapy, height SDS increased from -2.55 to -1.74 (p=0.433), and weight SDS increased from -1.79 to -0.51 (p=0.042). Annual fracture frequency decreased significantly from 2.14 to 0.62 per year (p<0.001). Conclusions: Three monthly pamidronate or daily alendronate therapy is effective to reduce clinical symptoms and annual fracture rate. Both biphosphonates enhance BMD safely without remarkable side effects. However, duration of therapy and possible side effects in the long run are still unclear and further research in larger groups is necessary.
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Keywords
Osteogenezis imperfekta, Kırık, Bifosfonat, Kollajen, Osteogenesis imperfecta, Fracture, Biphosfonates, Collagen
Citation
Eren, E. vd. (2011). "Osteogenezis imperfektalı hastalarda bifosfonatların etkinliği". Güncel Pediatri, 9(3), 122-126.