Yıl: 2017 Cilt: 15 Sayı: 1 Sayfa Aralığı: 1 - 5 Metin Dili: İngilizce DOI: 10.4274/jcp.26234 İndeks Tarihi: 03-12-2018

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<0.001). Conclusions: Treatment of OI with pamidronate was observed to increase bone mineral density, decrease number of fractures and pain, and improve the patient’s quality of life with inreasing mobility. Pamidronate is one of the most effective treatments of OI until a more effective treatment is found. On the other hand, since the long-term side effect of pamidronate on bones is not well-known, we think that randomised controlled studies still need to be done to determine the optimal time, interval and dose for bisphosphonate use.
Anahtar Kelime:

Konular: Tıbbi Etik Pediatri

Osteogenezis İmperfekta Tanısı Alan Hastaların Retrospektif Olarak Değerlendirilmesi

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<0,001). Sonuç: Oİ’de pamidronat tedavisi ile kemik mineral yoğunluğunda artış, kırık sayısında, ağrıda azalma ve mobilitede artış sağlanması ile hastaların yaşam kalitesinde ciddi iyileşmeler sağlanabildiği görülmüştür. Daha etkin bir tedavi bulununcaya kadar pamidronat Oİ tedavisinde en etkin seçeneklerden biri olarak görülmektedir. Ancak pamidronatın kemik üzerinde kronik yan etkileri net olarak bilinmediği için bifosfonat kullanımında optimal süre, kullanım aralığı ve dozu konusunda randomize kontrollü daha birçok çalışmaya ihtiyaç olduğunu düşünmekteyiz.
Anahtar Kelime:

Konular: Tıbbi Etik Pediatri
Belge Türü: Makale Makale Türü: Araştırma Makalesi Erişim Türü: Erişime Açık
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APA Aslan M, Eren E, Sağlam H, TARIM Ö (2017). Retrospective Evaluation of Patients Diagnosed with Osteogenesis Imperfecta. , 1 - 5. 10.4274/jcp.26234
Chicago Aslan Mustafa Törehan,Eren Erdal,Sağlam Halil,TARIM Ömer Faruk Retrospective Evaluation of Patients Diagnosed with Osteogenesis Imperfecta. (2017): 1 - 5. 10.4274/jcp.26234
MLA Aslan Mustafa Törehan,Eren Erdal,Sağlam Halil,TARIM Ömer Faruk Retrospective Evaluation of Patients Diagnosed with Osteogenesis Imperfecta. , 2017, ss.1 - 5. 10.4274/jcp.26234
AMA Aslan M,Eren E,Sağlam H,TARIM Ö Retrospective Evaluation of Patients Diagnosed with Osteogenesis Imperfecta. . 2017; 1 - 5. 10.4274/jcp.26234
Vancouver Aslan M,Eren E,Sağlam H,TARIM Ö Retrospective Evaluation of Patients Diagnosed with Osteogenesis Imperfecta. . 2017; 1 - 5. 10.4274/jcp.26234
IEEE Aslan M,Eren E,Sağlam H,TARIM Ö "Retrospective Evaluation of Patients Diagnosed with Osteogenesis Imperfecta." , ss.1 - 5, 2017. 10.4274/jcp.26234
ISNAD Aslan, Mustafa Törehan vd. "Retrospective Evaluation of Patients Diagnosed with Osteogenesis Imperfecta". (2017), 1-5. https://doi.org/10.4274/jcp.26234
APA Aslan M, Eren E, Sağlam H, TARIM Ö (2017). Retrospective Evaluation of Patients Diagnosed with Osteogenesis Imperfecta. Güncel Pediatri, 15(1), 1 - 5. 10.4274/jcp.26234
Chicago Aslan Mustafa Törehan,Eren Erdal,Sağlam Halil,TARIM Ömer Faruk Retrospective Evaluation of Patients Diagnosed with Osteogenesis Imperfecta. Güncel Pediatri 15, no.1 (2017): 1 - 5. 10.4274/jcp.26234
MLA Aslan Mustafa Törehan,Eren Erdal,Sağlam Halil,TARIM Ömer Faruk Retrospective Evaluation of Patients Diagnosed with Osteogenesis Imperfecta. Güncel Pediatri, vol.15, no.1, 2017, ss.1 - 5. 10.4274/jcp.26234
AMA Aslan M,Eren E,Sağlam H,TARIM Ö Retrospective Evaluation of Patients Diagnosed with Osteogenesis Imperfecta. Güncel Pediatri. 2017; 15(1): 1 - 5. 10.4274/jcp.26234
Vancouver Aslan M,Eren E,Sağlam H,TARIM Ö Retrospective Evaluation of Patients Diagnosed with Osteogenesis Imperfecta. Güncel Pediatri. 2017; 15(1): 1 - 5. 10.4274/jcp.26234
IEEE Aslan M,Eren E,Sağlam H,TARIM Ö "Retrospective Evaluation of Patients Diagnosed with Osteogenesis Imperfecta." Güncel Pediatri, 15, ss.1 - 5, 2017. 10.4274/jcp.26234
ISNAD Aslan, Mustafa Törehan vd. "Retrospective Evaluation of Patients Diagnosed with Osteogenesis Imperfecta". Güncel Pediatri 15/1 (2017), 1-5. https://doi.org/10.4274/jcp.26234