Abstract：
Osteogenesis imperfecta (OI) is the most common inherited form of bone fragility and includes a heterogeneous group of genetic disorders that most commonly result from defects associated with type I collagen. Although genetic analyses have been developed, nationwide research on the incidence and associated fractures in OI is lacking. This study aimed to investigate the patterns of OI prevalence, incidence, fracture rate, etc. in South Korea using National Health Insurance Service (NHIS) claims data. We found 1596 patients newly diagnosed with OI between March 2002 and February 2020. We evaluated the incidence, prevalence, and history of fractures, fracture site, prescription of anti-osteoporosis drugs, etc. To compare medical costs, fracture rates, and scoliosis rates, we created a control group comprising patients without OI using 1:1 propensity score matching. The prevalence of OI increased slightly each year, with an annual incidence of 20.20 per 100,000 live births. Mean fracture frequency in OI patients was 17 (2-32) times per patient and the most frequent fracture site was the lower leg. A total of 21.4% patients were prescribed anti-osteoporosis drugs, and the most popular drug was pamidronate. After 1:1 propensity score matching, in terms of scoliosis, OI patients had a 3.91 times higher prevalence of scoliosis than in healthy patients which was statistically significant. The sum of medical care expenses for patients with OI was 3.5 times higher than that for patients without OI. We identified nationwide trends in OI occurrence, fractures, and medication use. This study also highlighted the real-world data of scoliosis and medical costs compared to the control group.
摘要：
成骨不全症（OI）是骨脆性最常见的遗传形式，包括一组异质性的遗传疾病，最常见于与I型胶原蛋白相关的缺陷。尽管已经开发了遗传分析，缺乏关于OI发病率和相关骨折的全国性研究。这项研究旨在调查OI患病率的模式，发病率,断裂率,等。在韩国使用国民健康保险服务(NHIS)索赔数据。我们发现了2002年3月至2020年2月期间新诊断为OI的1596例患者。我们评估了发病率，患病率,和骨折史，骨折部位,抗骨质疏松药物处方,等。为了比较医疗费用，骨折率，和脊柱侧弯的发生率，我们使用1:1倾向评分匹配法创建了一个由无OI患者组成的对照组.OI的患病率每年略有增加，年发病率为20.20/10万活产。OI患者的平均骨折频率为每位患者17（2-32）次，最常见的骨折部位是小腿。共有21.4%的患者服用了抗骨质疏松药物,最受欢迎的药物是帕米膦酸盐。1:1倾向评分匹配后，就脊柱侧弯而言，OI患者的脊柱侧凸患病率是健康患者的3.91倍，具有统计学意义。OI患者的医疗费用总和是无OI患者的3.5倍。我们确定了OI发生的全国趋势，骨折,和药物使用。这项研究还强调了与对照组相比，脊柱侧凸和医疗费用的实际数据。
