目的 调查西南地区成骨不全症儿童的生存质量现状，分析影响因素，为拟定家庭疾病管理方案提供参考。 方法 采用混合研究调查成骨不全症患儿的生存质量。质性研究采用现象学研究，对20名来自某三甲儿童医院的成骨不全症照顾者进行半结构式访谈，运用Colaizzi 7步分析法对访谈资料进行整理分析。量性研究采用儿童生存质量普适性量表评估西南地区34名成骨不全症患儿的生存质量，并将同龄健康儿童作为对照组；采用单因素及多元线性回归分析确定影响因素。 结果 ①生存质量主题，担心骨折，疼痛耐受性高，辅助行走器械缺乏，同伴交往减少，学校氛围良好。②成骨不全症患儿生存质量低于健康人群，总分（t=-6.732，P<0.001）、生理功能（P=0.000）和社交维度（P=0.000）差异有统计学意义；多元线性回归显示独立行走能力（t=3.490，P=0.001）和固定玩伴（t=3.164，P=0.003）进入回归方程（P<0.05），共解释生存质量得分变异的40.9%。 结论 提升成骨不全症儿童的生存质量需建立家庭疾病管理能力。医务人员需从知识普及、就医指导、未来规划、规避潜在问题等方面建立其慢病管理能力。

Objective To investigate the quality of life in children with osteogenesis imperfecta in southwest China， and analyze the influencing factors， and to provide a reference for the management of this disease at home. Methods A mixed methods design was employed to study the quality of life of children with osteogenesis imperfecta. In the qualitative phenomenological research part，we conducted semi-structured interviews with 20 osteogenesis imperfecta caregivers from a tertiary class-A children's hospital，and used Colaizzi's seven-step method to analyze the interview data. In the quantitative research part，we used the Pediatric Quality of Life Inventory to assess the quality of life of 34 children with osteogenesis imperfecta in southwest China，and determined the influencing factors through univariable and multivariable linear regression analyses，with age-matched healthy children as the control group. Results Five themes were identified in the qualitative research about quality of life：worry about fractures，a high pain tolerance，a lack of walking aids， a lack of peer communications，and a friendly school atmosphere. The quality of life of children with osteogenesis imperfecta was lower than that of healthy peers，with significant differences in the total score（t=-6.732，P<0.001），the physiological function score（P<0.001），and the social dimension（P<0.001）. Independent walking ability（t=3.490，P=0.001） and fixed playmates（t=3.164，P=0.003） entered the multiple regression equation，which co-explained 40.9% of variations in the quality of life score. Conclusion Family's disease management ability is needed to improve the quality of life for children with osteogenesis imperfecta. Medical staff need to establish chronic disease management at home from the aspects of knowledge popularization， medical guidance， future planning， and avoiding potential problems.