Özmert M. A. ÖZDEMİR, İlknur KILIÇ, Serap SEMİZ, Maşallah CANDEMİR

Osteogenezis imperfekta tedavisinde yenilikler ve pamidronat tedavisi

Osteogenezis imperfekta kemik kitlesinde azalma ve kemik frajilitesinde artma ile karakterize, yaklaşık 20 000 doğumda bir görülen genetik bir bozukluktur. Klinik ve radyolojik bulgular ile tanısı kolay konulabilen hastalığın tedavisi, medikal, fizik tedavi ve rehabilitasyon ile ortopedik cerrahi eşliğinde multidisipliner bir çalışmayı gerektirir. Postnatal birinci gününde; fizik muayenede üçgen yüz, koyu gri sklera, çekilen kemik grafilerinde çoklu kırık, kemik deformiteleri, kallus formasyonu saptanan ve osteogenesis imperfekta tanısı konulan olgu, nadir görülmesi ve tedavideki yenilikleri literatür eşliğinde tartışmak amacıyla sunulmuştur.

Anahtar Kelimeler:

Osteogenezis imperfekta, Kadın, Süt çocuğu, yenidoğan

New therapeutic agents for the treatment of osteogenesis imperfecta and pamidronate treatment

Osteogenesis imperfecta (OI) is a genetic disorder that characterized by low bone mass and increased bone fragility. The prevalence of OI is estimated as 1 in 20 000 births. In the majority of cases, diagnosis of OI is easy on the basis of clinical and radiological findings. Physiotherapy, rehabilitation, and orthopaedic sugery are the mainstay of treatment for patients with OI. In this report, we present a newborn who was diagnosed as OI which is a rare disorder in childhood with clinical and laboratory findings such as triangular face, dark sklera and multiple fractures, bone deformities, hyperplastic callus formation on x-rays on postnatal first day of life, to discuss new treatment methods and recent literature.

Keywords:

Osteogenesis Imperfecta, Female, Infant, Newborn,

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