Neonatal hipokalsemi gözlenen malign infantil osteopetroz olgusu

Malign infantil osteopetroz hayatın ilk yılında bulgu veren otozomal ressesif geçişli bir kemik hastalığıdır. Osteoklastların immatür kemikte rezorpsiyon yapamamaları sonucu oluştuğu düşünülmektedir. Böylece kemik iliği ve foraminalarda daralma ile kemik iliği yetersizliği ve sinir basıları ortaya çıkar. İmmun fonksiyonlarda defekt neonatal sepsise neden olur. Yenidoğan döneminde bazen hipokalsemi ve yol açtığı klinik problemlerle seyredebilir. Bu yazıda malign infantil osteopetroz tanısı ile izlenen bir olgu sunulmaktadır

Abstract

Malignant infantile osteopetrosis is the autosomal recessively inherited form of osteopetrosis that usuallly presents within the first year of life. It is believed to arise due to failure of osteoclasts to resorb immature bone. This leads to abnormal bone marrow cavity formation, foraminal narrowing and, clinically to the signs and symptoms of bone marrow failure and nerve compresion. Deficits in immun function can cause neonatal sepsis. Rarely, osteopetrosis may be presented neonatal hypocalcemia and related clinical pictures. In this study, a case of infantile child with osteopetrosis is presented.

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Bu Makaleye Atıf Yap

CANPOLAT, M., HATİPOĞLU, N., KÖKLÜ, E., ALTUNAY, C., KURTOĞLU, S. (2022). Neonatal hipokalsemi gözlenen malign infantil osteopetroz olgusu. Erciyes Tıp Dergisi, Cilt: 31 - Sayı: 1, 70–73. https://ajindex.com/articles/502619

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