PDF(Pubmed)
Abstract：
Osteogenesis imperfecta (OI)is a rare genetically heterogeneous disorder caused by changes in the expression or processing of type I collagen. Clinical manifestations include bone fragility, decreased linear growth, and skeletal deformities that vary in severity. In typically growing children, skeletal maturation proceeds in a predictable pattern of changes in the size, shape, and mineralization on the hand and wrist bones that can be followed radiographically known at the bone age. Assessment of bone age can be clinically used to assess time remaining for linear growth, and the onset and duration of puberty, both of which can be useful in determining the timing of some surgeries or the interpretation of other imaging modalities such as bone densitometry. Additionally, deviations in the expected maturation process of the bone age may prompt or assist in the work up of a significant delay or advancement in a child\'s growth pattern. The primary aim of our study was to determine whether the bone age in children with a skeletal disorder such as OI follow the same pattern and rate of bone maturation compared to a control population. Using participants from the Natural History Study of the Brittle Bone Disorders Consortium, we analyzed 159 left hand and wrist radiographs (bone age) for a cross-sectional analysis and 55 bone ages repeated at approximately 24 months for a longitudinal analysis of skeletal maturation. Bone ages were read by a pediatric endocrinologist and by an automated analysis using a program called BoneXpert. Our results demonstrated that in children with mild-to-moderate OI (types I and IV), the skeletal maturation is comparable to chronological age-mated controls. For those with more severe forms of OI (type III), there is a delayed pattern of skeletal maturation of less than a year (10.5 months CI 5.1-16) P = 0.0012) at baseline and a delayed rate of maturation over the two-year follow up compared to type I (P = 0.06) and type III (P = 0.02). However, despite these parameters being statistically different, they may not be clinically significant. We conclude the bone age, with careful interpretation, can be used in the OI population in a way that is similar to the general pediatric population.
摘要：
成骨不全症（OI）是一种罕见的遗传异质性疾病，由I型胶原蛋白的表达或加工变化引起。临床表现包括骨脆性，线性增长减少，和严重程度不同的骨骼畸形。在典型的成长中的孩子，骨骼成熟以可预测的大小变化模式进行，形状,以及手部和腕骨上的矿化，可以在骨骼年龄通过射线照相得知。骨龄评估可在临床上用于评估线性生长的剩余时间，青春期的开始和持续时间，这两者都有助于确定某些手术的时机或其他成像方式的解释，例如骨密度测定。此外,骨龄的预期成熟过程中的偏差可能会提示或帮助儿童生长模式的显著延迟或进步。我们研究的主要目的是确定与对照组相比，患有OI等骨骼疾病的儿童的骨龄是否遵循相同的模式和骨成熟率。使用脆性骨骼疾病联盟的自然历史研究的参与者，我们分析了159张左手和腕部X线照片(骨龄)进行横断面分析,并分析了55个骨龄在大约24个月时重复进行的骨骼成熟度纵向分析.骨龄由儿科内分泌学家读取，并使用名为BoneXpert的程序进行自动分析。我们的结果表明，在轻度至中度OI（I型和IV型）的儿童中，骨骼成熟与按年龄顺序的对照相当。对于那些有更严重形式的OI(III型)的人，与I型(P=0.06)和III型(P=0.02)相比,基线时骨骼成熟的延迟模式小于1年(10.5个月CI5.1-16)P=0.0012,两年随访时的成熟率延迟.然而,尽管这些参数在统计上不同，它们可能没有临床意义。我们得出骨龄的结论，仔细解读,可以以类似于普通儿科人群的方式在OI人群中使用。
