Osteogenez İmperfekta, birçok fenotipe sahip, nadir görülen kalıtsal bir kemik metabolizması hastalığıdır. Tip I kollajen yapımından sorumlu genlerdeki mutasyonlar sonucunda oluşur. Hem otozomal dominant hem de otozomal resesif geçişli bu hastalıkta, vakaların %80'inden fazlası en yaygın COL1A1 ve COL1A2 genlerindeki mutasyonlarla ilişkilidir. IFITM5 genindeki mutasyonlar ise vakaların %5-10'undan sorumludur. IFITM5 geninde görülen en yaygın mutasyon “c. - 14C> T”, otozomal dominant Osteogenez İmperfekta Tip V'den sorumludur. Osteogenez İmperfekta Tip V’in klinik varyasyonu çoktur. Bazı durumlarda fenotipik özelliklerin zayıf olması tanıyı daha da zorlaştırır. Bu olgu sunumu hem hastanemizde ilk tanı konulan Osteogenez İmperfekta Tip V olgusu olması hem de klinik özelliklerinin farklı olması nedeniyle sunulmuştur.
Osteogenesis Imperfecta (OI) is a rare hereditary disease of bone metabolism which has many phenotypes. It occurs as a result of mutations in genes responsible for making Type I collagen. In this disease with both autosomal dominant and recessive inheritance, more than 80% of cases are associated with mutations in COL1A1-A2 genes. In the rest, mutations in the IFITM5 gene are responsible for 5-10% of the cases. The most common mutation seen in IFITM5 gene “c. - 14C> T ” is responsible for autosomal dominant OI Type V. There are many clinical variations of OI type V. The fact that the poor phenotypic features in some cases make the diagnosis more difficult. This case report was presented because of both being the first OI Type V case diagnosed in our hospital and differences of its clinical features.
Primary Language | Turkish |
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Subjects | Health Care Administration |
Journal Section | Articles |
Authors | |
Publication Date | August 25, 2021 |
Submission Date | October 25, 2020 |
Acceptance Date | February 10, 2021 |
Published in Issue | Year 2021 Volume: 14 Issue: 2 |
MEU Journal of Health Sciences Assoc was began to the publishing process in 2008 under the supervision of Assoc. Prof. Gönül Aslan, Editor-in-Chief, and affiliated to Mersin University Institute of Health Sciences. In March 2015, Prof. Dr. Caferi Tayyar Şaşmaz undertook the Editor-in Chief position and since then he has been in charge.
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