TY  - JOUR
T1  - Mavi sklera varlığıyla birlikte farklı fenotipik özelliklere sahip osteogenez imperfekta tip 5 olgusu
TT  - A case of osteogenesıs ımperfecta type 5 wıth dıfferent phenotypıc features wıth the presence of blue sclera
AU  - Güneş Korkut, Didem
AU  - Kor, Deniz
AU  - Bulut, Fatma Derya
AU  - Kılavuz, Sebile
AU  - Ceylaner, Serdar
AU  - Ballı, Tuğsan
AU  - Önenli Mungan, H. Neslihan
PY  - 2021
DA  - August
Y2  - 2021
DO  - 10.26559/mersinsbd.808861
JF  - Mersin Üniversitesi Sağlık Bilimleri Dergisi
JO  - Mersin Univ Saglık Bilim Derg
PB  - Mersin Üniversitesi
WT  - DergiPark
SN  - 1308-0830
SP  - 354
EP  - 359
VL  - 14
IS  - 2
LA  - tr
AB  - 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.
KW  - Osteogenez imperfekta
KW  - osteoporoz
KW  - bisfosfonat
KW  - deformite
N2  - 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.
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UR  - https://doi.org/10.26559/mersinsbd.808861
L1  - https://dergipark.org.tr/tr/download/article-file/1338899
ER  -