I型成骨不全症患者的功能性肌肉-骨骼单元

The functional muscle-bone unit in patients with osteogenesis imperfecta type I.

作者信息

Veilleux Louis-Nicolas, Pouliot-Laforte Annie, Lemay Martin, Cheung Moira S, Glorieux Francis H, Rauch Frank

机构信息

Shriners Hospital for Children, 1529 Cedar Avenue, Montréal, Québec H3G 1A6, Canada; Department of Pediatrics, McGill University, 1529 Cedar Avenue, Montréal, Québec H3G 1A6, Canada; Centre de Réadaptation Marie-Enfant, Research Center, Hôpital Sainte-Justine, 5200 Bélanger Street East, Montréal, Québec H1T 1C9, Canada.

Shriners Hospital for Children, 1529 Cedar Avenue, Montréal, Québec H3G 1A6, Canada; Centre de Réadaptation Marie-Enfant, Research Center, Hôpital Sainte-Justine, 5200 Bélanger Street East, Montréal, Québec H1T 1C9, Canada; Département de Kinanthropologie, Université du Québec à Montréal, 141 Avenue du Président Kennedy Complexe des Sciences Pierre-Dansereau, Montréal, Québec H2X 1Y4, Canada.

出版信息

Bone. 2015 Oct;79:52-7. doi: 10.1016/j.bone.2015.05.019. Epub 2015 May 21.

DOI:10.1016/j.bone.2015.05.019

PMID:26004918

Abstract

CONTEXT

Osteogenesis imperfecta (OI) type I is a heritable bone fragility disorder that is caused by mutations affecting collagen type I. We recently showed that patients with OI type I frequently have muscle weakness. As muscle force and bone mass are usually closely related, we hypothesized that muscle weakness in OI type I could contribute to increase bone mass deficit in the lower extremities.

OBJECTIVE

To assess the muscle-bone relationship in the lower extremities of children and adolescents with OI type I.

SETTING

The study was carried out in the outpatients department of a pediatric orthopedic hospital. Patients and other participants Thirty children and adolescents with OI type I (20 females; mean age [SD]: 11.2 years [3.9]) were compared with 30 healthy age- and sex-matched controls (mean age [SD]: 11.1 years [4.5]).

MAIN OUTCOME MEASURES

Tibia bone mineral content (BMC; mg/mm) was measured by peripheral quantitative computed tomography to estimate bone strength at the 4% and 14% sites. Lower extremity peak force (kN) was measured by mechanography using the multiple two-legged hopping test.

RESULTS

Compared with age- and sex-matched controls, patients with OI type I had 17% lower peak force (1.3 kN vs. 1.7 kN; p=0.002) as well as a 22% lower BMC (128 mg/mm vs. 165 mg/mm; p<0.001). Stepwise regression analysis showed that muscle force and tibia length were positively related to bone strength (r(2)=0.90, p<0.001) whereas there was no effect of the disease status (OI vs. control).

CONCLUSIONS

These results suggest that the muscle-bone relationship is similar between children and adolescents with OI type I and healthy age and sex-matched controls. It also suggests that muscle weakness may contribute to decreased bone strength in individuals with OI type I.

摘要

背景

I型成骨不全症（OI）是一种遗传性骨脆性疾病，由影响I型胶原蛋白的突变引起。我们最近发现，I型OI患者经常出现肌肉无力。由于肌肉力量和骨量通常密切相关，我们推测I型OI患者的肌肉无力可能导致下肢骨量不足增加。

目的

评估I型OI儿童和青少年下肢的肌肉与骨骼关系。

地点

该研究在一家儿科骨科医院的门诊部进行。患者和其他参与者30名I型OI儿童和青少年（20名女性；平均年龄[标准差]：11.2岁[3.9]）与30名年龄和性别匹配的健康对照者（平均年龄[标准差]：11.1岁[4.5]）进行比较。

主要观察指标

通过外周定量计算机断层扫描测量胫骨骨矿物质含量（BMC；mg/mm），以评估4%和14%部位的骨强度。使用多次双腿跳跃试验通过力学描记法测量下肢峰值力（kN）。

结果

与年龄和性别匹配的对照组相比，I型OI患者的峰值力低17%（1.3 kN对1.7 kN；p=0.002），BMC低22%（128 mg/mm对165 mg/mm；p<0.001）。逐步回归分析表明，肌肉力量和胫骨长度与骨强度呈正相关（r(2)=0.90，p<0.001），而疾病状态（OI与对照）没有影响。