Osteogenezis İmperfektalı Hastalarda Bifosfonatların Etkinliği

Yıl 2012, Cilt: 10 Sayı: 1, 122 - 126, 01.06.2012

Erdal Eren Şahin Sincar Esra Deniz Papatya Çakır Halil Sağlam Ömer Tarım

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

Öz

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

Anahtar Kelimeler

Osteogenesis imperfecta, fracture, biphosfonates, collagen

Kaynakça

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