Osteogenezis İmperfekta Tanısı Alan Hastaların Retrospektif Olarak Değerlendirilmesi

Yıl 2017, , 1 - 5, 01.04.2017

Mustafa Törehan Aslan , Erdal Eren Halil Sağlam Ömer Tarım

https://doi.org/10.4274/jcp.26234

Öz

Giriş: Osteogenezis imperfekta Oİ tekrarlayan kemik kırıklarının yaşam kalitesini bozduğu kalıtsal bir hastalıktır. Çalışmamızın amacı Oİ tanısı almış hastalarının retrospektif değerlendirilip, Oİ’de yeni belirlenebilecek tanı ve tedavi protokollerine yardımcı olabilecek veriler sağlayabilmektir. Gereç ve Yöntem: Kliniğimizde Oİ tanısı ile takip edilen 28 olgu retrospektif olarak değerlendirildi. Oİ’nin klinik sınıflandırması yapıldı. Yaş, cinsiyet ve oksolojik veriler değerlendirildi. Boy, kilo ve vücut kitle indeksi VKİ verileri standart sapma skoru SSS olarak verildi. Ailede kırık öyküsü ve akraba evliliği araştırıldı. Fizik muayenede, mavi sklera ve deformite varlığı değerlendirildi. Bulgular: Çalışmaya alınan 28 olgumuzun 14’ü erkek %50 , 14’ü kız %50 , ortalama yaş 7,48±5,09 yıl idi. Olguların ortalama tanı yaşı ise 25,59±39,59 ay idi. On olguda %47,6 ailesinde başka bireylerde de Oİ tanı öyküsü, yedi olguda %25 ise akraba evliliği öyküsü vardı. Olgular Sillence sınıflamasına göre otozomal dominant geçen dört klinik tipe ayrıldığında; 13 olgu %46,4 tip 1, 10 olgu %35,7 tip 3, 5 olgu %17,9 tip 4 olarak sınıflandırıldı. Olguların tedavi sonrası ortalama bazal çift X ışınlı absorpsiyometri Z skoru, ortalama boy SSS’si, ortalama ağırlık SSS’si ve VKİ SSS’si anlamlı olarak yükseldi p

Anahtar Kelimeler

Osteogenezis imperfekta, pamidronat, dual X ışınlı absorpsiyometri

Retrospective Evaluation of Patients Diagnosed with Osteogenesis Imperfecta

Öz

Introduction: Osteogenesis imperfecta OI is a hereditary disease that impairs the quality of life by frequent bone fractures. The objective of our study is to retrospectively evaluate patients diagnosed with OI and to come up with helpful data that will assist developing new diagnosis and treatment protocols.Materials and Methods: Twenty-eight cases with OI who were followed-up in our clinic were retrospectively evaluated. Clinical classification of OI was done. Age, sex, and oxologic data were evaluated. Height, weight and body mass index BMI data was given as standard deviation score SDS . Family history of fracture and consanguineous marriage was sought. Blue sclera and presence of deformity was evaluated on physical examination.Results: Out of the 28 cases in our study, 14 50% were boys, 14 50% were girls, and mean age was 7.48±5.09 years. Mean age of diagnosis was 25.59±39.59 months. Ten cases 47.6% had OI, and 7 cases 25% had consanguineous marriage in their family history. The cases were separated into autosomal dominant 4 clinical types according to Sillence classification as follows; 13 cases 46.4% type 1, 10 cases 35.7% type 3, and 5 cases 17.9% type 4. The mean average basal dual energy X-ray absorptiometry Z score, mean height SDS, mean weight SDS and BMI SDS significantly increased for the cases after treatment p

Anahtar Kelimeler

Osteogenesis imperfecta, pamidronate, dual energy X-ray absorptiometry

Kaynakça

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