Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Department of Bone and Osteogenesis Imperfecta, Kennedy Krieger Institute, Baltimore, Maryland, USA.
Genet Med. 2019 Feb;21(2):275-283. doi: 10.1038/s41436-018-0045-1. Epub 2018 Jul 4.
Osteogenesis imperfecta (OI) predisposes people to recurrent fractures, bone deformities, and short stature. There is a lack of large-scale systematic studies that have investigated growth parameters in OI.
Using data from the Linked Clinical Research Centers, we compared height, growth velocity, weight, and body mass index (BMI) in 552 individuals with OI. Height, weight, and BMI were plotted on Centers for Disease Control and Prevention normative curves.
In children, the median z-scores for height in OI types I, III, and IV were -0.66, -6.91, and -2.79, respectively. Growth velocity was diminished in OI types III and IV. The median z-score for weight in children with OI type III was -4.55. The median z-scores for BMI in children with OI types I, III, and IV were 0.10, 0.91, and 0.67, respectively. Generalized linear model analyses demonstrated that the height z-score was positively correlated with the severity of the OI subtype (P < 0.001), age, bisphosphonate use, and rodding (P < 0.05).
From the largest cohort of individuals with OI, we provide median values for height, weight, and BMI z-scores that can aid the evaluation of overall growth in the clinic setting. This study is an important first step in the generation of OI-specific growth curves.
成骨不全症(OI)易导致患者反复骨折、骨骼畸形和身材矮小。目前缺乏大规模系统研究来调查 OI 患者的生长参数。
我们利用来自关联临床研究中心的数据,比较了 552 名 OI 患者的身高、生长速度、体重和体重指数(BMI)。身高、体重和 BMI 均绘制在疾病控制与预防中心的标准曲线上。
在儿童中,OI 类型 I、III 和 IV 的身高中位数 z 评分分别为-0.66、-6.91 和-2.79。OI 类型 III 和 IV 的生长速度均降低。OI 类型 III 儿童的体重中位数 z 评分为-4.55。OI 类型 I、III 和 IV 儿童的 BMI 中位数 z 评分分别为 0.10、0.91 和 0.67。广义线性模型分析表明,身高 z 评分与 OI 亚型的严重程度(P<0.001)、年龄、双膦酸盐的使用和支具(P<0.05)呈正相关。
在最大的 OI 患者队列中,我们提供了身高、体重和 BMI z 评分的中位数数值,有助于在临床环境中评估整体生长情况。本研究是生成 OI 特异性生长曲线的重要的第一步。