■本研究旨在描述一大群意大利成骨不全症患者,提供临床骨和非骨特征以及分子背景的图片,以提高对疾病的认识,为临床实践提供适当的管理。
■本研究考虑了2006年至2021年在OrtopedicoRizzoli研究所接受门诊治疗的568名患者(来自446个无关的意大利家庭)。
■分析了骨骼和骨骼外特征,显示与一般意大利人群相比,身高较低(男性患者的平均z分数等于-1.54,女性患者的平均z分数等于-1.47)。一半的患者表现出一种或多种畸形,大多数患者的骨折数量相对较少(<10)。在447名患者中发现巩膜颜色的改变。同样,几个骨外特征,比如耳聋,牙齿异常,还有心脏问题,被调查了。此外,遗传和遗传背景进行了评估,显示大多数患者有阳性家族史,检测到的大多数致病变异是在胶原基因上,根据文学。
■这项研究支持对导致骨骼和骨骼外特征以及意大利成骨不全症患者的遗传背景的异质性临床表现的清晰定义。从这个角度来看,这清楚地突出了标准化和结构化的高质量数据收集在疾病登记中的关键作用,特别是在罕见疾病情况下,帮助临床医生进行疾病监测和随访,以改善临床实践。
The present study aims to describe a large cohort of Italian patients affected by osteogenesis imperfecta, providing a picture of the clinical bony and non-bony features and the molecular background to improve knowledge of the disease to inform appropriate management in clinical practice.
A total of 568 subjects (from 446 unrelated Italian families) affected by osteogenesis imperfecta who received outpatient care at Istituto Ortopedico Rizzoli from 2006 to 2021 were considered in the present study.
Skeletal and extraskeletal features were analyzed showing a lower height (mean z-scores equal to -1.54 for male patients and -1.47 for female patients) compared with the general Italian population. Half of the patient population showed one or more deformities, and most of the patients had suffered a relatively low number of fractures (<10). An alteration in the sclera color was identified in 447 patients. Similarly, several extraskeletal features, like deafness, dental abnormalities, and cardiac problems, were investigated. Additionally, inheritance and genetic background were evaluated, showing that most of the patients have a positive family history and the majority of pathogenic variants detected were on collagen genes, as per literature.
This study supports the definition of a clear picture of the heterogeneous clinical manifestations leading to variable severity in terms of skeletal and extra-skeletal traits and of the genetic background of an Italian population of osteogenesis imperfecta patients. In this perspective, this clearly highlights the crucial role of standardized and structured collection of high-quality data in disease registries particularly in rare disease scenarios, helping clinicians in disease monitoring and follow-up to improve clinical practice.