Levent YAZMALAR, İBRAHİM BATMAZ, Zübeyr DAĞLI, Erkam HATTAPOĞLU, Mustafa Akif SARIYILDIZ

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

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

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

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.

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