Erdal EREN, Halil SAĞLAM, Ömer TARIM, Şahin SİNCAR, Esra Deniz Papatya ÇAKIR

Osteogenezis imperfektalı hastalarda bifosfonatların etkinliği

Girifl: 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 Oİlı 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 12si erkek (%57,1), 9u 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

Efficacy of biphosphonates in patients with osteogenesis ımperfecta

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

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