Department of Endocrinology, Key Laboratory of Endocrinology of Ministry of Health, National Health and Family Planning Commission, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Shuaifuyuan No.1, Dongcheng District, Beijing, 100730, China.
Department of Endocrinology, The Second Hospital of Shandong University, Jinan, 250033, Shandong, China.
Osteoporos Int. 2019 Feb;30(2):461-468. doi: 10.1007/s00198-018-4801-5. Epub 2018 Dec 19.
In this large-sample study, we demonstrated that osteogenesis imperfecta (OI) significantly impaired the quality of life (QoL) in children. Moderate/severe OI patients had worse QoL scores than patients with mild OI. Furthermore, the QoL for OI patients was correlated with the presence of pathogenic gene mutations.
Osteogenesis imperfecta (OI) is a hereditary disease characterized by multiple fragility fractures and progressive skeletal deformities. No detailed investigations about the quality of life (QoL) have been carried out in a large sample of patients with OI. We evaluated the QoL and its influencing factors in a large and well-characterized OI cohort.
We used a validated questionnaire of PedsQL 4.0 to evaluate the health-related quality of life (HRQoL) of children and adolescents with OI. We compared HRQoL among patients with OI types I, III, and IV. The relationship between HRQoL and pathogenic mutations in candidate OI genes was investigated. We also evaluated the influencing factors of HRQoL in OI patients.
A total of 138 children with OI and 138 healthy controls were enrolled in this study. The HRQoL scores of OI patients were 64.4 ± 30.0, 71.9 ± 22.2, 75.7 ± 24.8, 63.7 ± 24.5, and 68.9 ± 22.0 in physical, emotional, social, school functioning, and total score, respectively, which were significantly lower than those of healthy children (86.5 ± 12.7, 83.3 ± 16.0, 92.1 ± 11.8, 87.5 ± 11.8, and 87.3 ± 10.7, all p < 0.01). Moderate and severe OI (type III/IV) patients had poorer HRQoL scores than patients with mild OI (type I). Gene mutations inducing qualitative defects in type I collagen led to worse HRQoL scores than those with quantitative defects in type I collagen, except in emotional functioning. The total HRQoL score was positively correlated with family income, lumbar, and femoral bone mineral density (BMD) Z-scores and negatively correlated with disease severity and fracture frequency.
HRQoL was significantly impaired in OI patients, and patients with more severe OI had poorer HRQoL scores. For the first time, we found that children with qualitative defects in type I collagen had poorer HRQoL scores than those with quantitative defects in type I collagen.
在这项大样本研究中，我们证明成骨不全症（OI）显著降低了儿童的生活质量（QoL）。中重度 OI 患者的 QoL 评分比轻度 OI 患者更差。此外，OI 患者的 QoL 与致病性基因突变的存在相关。
成骨不全症（OI）是一种遗传性疾病，其特征为多发性脆性骨折和进行性骨骼畸形。尚未对大量 OI 患者进行详细的生活质量（QoL）调查。我们评估了大样本 OI 队列的 QoL 及其影响因素。
我们使用经过验证的 PedsQL 4.0 问卷评估 OI 类型 I、III 和 IV 患儿的健康相关 QoL（HRQoL）。我们比较了不同 OI 类型患者的 HRQoL。研究了 HRQoL 与候选 OI 基因中的致病性突变之间的关系。我们还评估了 OI 患者 HRQoL 的影响因素。
共纳入 138 例 OI 患儿和 138 例健康对照者。OI 患儿的 HRQoL 评分分别为物理功能 64.4±30.0、情感功能 71.9±22.2、社会功能 75.7±24.8、学校功能 63.7±24.5 和总分 68.9±22.0，均显著低于健康儿童（86.5±12.7、83.3±16.0、92.1±11.8、87.5±11.8 和 87.3±10.7，均 p<0.01）。中重度 OI（类型 III/IV）患儿的 HRQoL 评分较轻度 OI（类型 I）患儿差。导致 I 型胶原定性缺陷的基因突变导致的 HRQoL 评分比 I 型胶原定量缺陷的基因突变差，但情感功能除外。总 HRQoL 评分与家庭收入、腰椎和股骨骨密度（BMD）Z 评分呈正相关，与疾病严重程度和骨折频率呈负相关。
OI 患儿的 HRQoL 明显受损，病情越严重的患儿 HRQoL 评分越低。我们首次发现，I 型胶原定性缺陷患儿的 HRQoL 评分比 I 型胶原定量缺陷患儿差。
