OSTEOGENEZİS İMPERFEKTALI ÇOCUKLARDA PAMİDRONAT TEDAVİSİNİN BOY, KEMİK MİNERAL YOĞUNLUĞU, KIRIK SIKLIĞI VE KABA MOTOR BECERİLERE ETKİSİ

Öz

Amaç: Osteogenezis imprefekta (Oİ), kemik mikromimari bozukluğu nedeniyle osteopeni ve tekrarlayan kemik kırıklarının görüldüğü genetik, sistemik bağ doku hastalığıdır. Oİ’nin tedavisinde bisfosfonat grubu (pamidronat, zoledronik asit (ZA)) antirezorptif ilaçlar kullanılır. Bu çalışmada klinik olarak Oİ tanısı alan 16 olguda pamidronat tedavisinin boy, kemik mineral içeriği (KMİ) ve kemik mineral yoğunluğu (KMY), vertebra kırıkları, vertebra dışı kırıklar ve kaba motor alandaki becerilere etkisinin incelenmesi amaçlanmıştır. Gereç ve Yöntemler: Şubat 2022-Temmuz 2023 arasında Şanlıurfa Eğitim ve Araştırma Hastanesi çocuk endokrinoloji polikliniğinde izlenen ve Oİ tanısı alan 16 olgu (K/E=5/11) retrospektif olarak incelendi. Tıbbi geçmiş, antropometrik ölçümler, laboratuvar, radyolojik ve genetik incelemeler kaydedildi, olgular Sillence sınıflamasına göre gruplandırıldı. Bulgular: Olguların 14’ü tip III Oİ, 2’si tip I Oİ’ydi. Tip III Oİ ile izlenen olgular daha erken (0.4±0.5 yaş) tanı almıştı; 7.4±2.2 yıl izlenen olgular son kontrolde 7.9±1.8 yaşındaydı. Tip III olgular in-utero kırık (5/14), yaşamın ilk altı ayında tekrarlayan kırık (9/14), kardeşinde Oİ öyküsü (3/14) ile getirilmişti. 13’ü pamidronat, 3’ü zoledronik asit kullanan olguların tedaviyle boy SDS’sinde (önce: -4.2±0.5/son kontrol: -3.9±0.6) ve vücut kitle indeksi SDS’inde anlamlı değişim olmadı (p=0.09, p=0.08). Pamidronat tedavisi alan tip III Oİ’li olgularda KMİ ve KMD yaşa göre düşük olsa da yaşla birlikte KMİ ve KMY kazanımı gerçekleşti. Kemik mineral içeriği en fazla 5 yaşında kazanıldı. Vertebra dışı kırık sayısı tedavinin birinci yılında anlamlı derecede azaldı (sırasıyla 6.8±1.3 kırık/yıl, 2.4±1.2 kırık/yıl) (p=0.001); azalma son kontrolde de devam etti. Sonuç: Pamidronat tedavisi alan Oİ’li olgular kendi büyüme eğrilerinde büyümeye devam eder; belirgin boy persentili kazanımı olmasa da yaşa ve cinsiyete uygun büyüme hızı sağlanır; boy persentili kaybı engellenir. Tip III Oİ’li olgularda pamidronat tedavisi KMİ ve KMY’de belirgin artışı, vertebra dışı kırıklarda belirgin azalmayı, kaba motor alanda yeti kazanımını sağlayarak bağımsız hareket edebilmeyi sağlar.

Anahtar Kelimeler

• Osteogenezis imperfekta
• pamidronat
• tedavi yanıtı
• kemik mineral yoğunluğu
• vertebra dışı kırıklar
• kaba motor beceriler

Impact of Pamidronate on Height, Bone Mineral Density, Fracture Rate and Gross Motor Function Among Children with Osteogenesis Imperfecta

Öz

Objective: Osteogenesis imperfecta (OI) is a genetic, systemic connective tissue disease characterized by osteopenia and recurrent bone fractures. Bisphosphonates (pamidronate and zoledronic acid (ZA)) are antiresorptives used in OI. The aim of this study is to evaluate the impact of pamidronate on height, bone mineral content (BMC), bone mineral density (BMD), vertebral and non-vertebral fractures as well as gross motor functions among children with OI. Material and Methods: 16 patients (F/M=5/11) with OI followed in Şanlıurfa Training and Research Hospital between February 2022-July 2023 were retrospectively evaluated . Medical history, anthropometric measures, laboratory, radiologic and genetic results were recorded, and patients were grouped according to Sillence classification. Results: 14 were type III OI while 2 were type I OI. Type III OI was diagnosed earlier (0.4±0.5 years). After 7.4±2.2 years of follow-up, patients were 7.9±1.8 years old on the last last examination. Patients with type III OI were diagnosed due to inutero fractures (5/14), recurrent fractures in the first six months (9/14) or a sibling diagnosed with OI (3/14). 13 used pamidronate while 3 used ZA. Height SDS (before: -4.2±0.5/last examination: -3.9±0.6) and body mass index remained unchanged (p=0.09, p=0.08).When type III OI was investigated, although BMC and BMD were low for age and gender, a gain in total BMC and BD was obtained with age. The highest gain was achieved in fifth year. Non-vertebral fractures decreased dramatically in the first year of treatment (6.8±1.3 fracture/year vs 2.4±1.2 fracture/year) (p=0.001); this reduction was sustained until last examination. Conclusion: Although significant height gain and catch-up growth were not observed in OI who are on pamidronate, growth rate consistent with peers was achieved and height percentile loss was prevented. Pamidronate ensures a significant increase in BMC, BMD and gross motor function and reduction of non-vertebral fractures enabling independent mobilization.

Anahtar Kelimeler

• Osteogenesis imperfecta
• pamidronate
• treatment response
• bone mineral density
• non-vertebral fractures
• gross motor function

Kaynakça

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