Kim Sungmin, Lee Young-Mock, Park Kun-Bo, Lee Minsu, Park Hoon
Department of Orthopedic Surgery, Chonnam National University Medical School and Hospital, Gwangju, South Korea.
Department of Pediatrics, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, South Korea.
Front Pediatr. 2021 Nov 4;9:637240. doi: 10.3389/fped.2021.637240. eCollection 2021.
Mitochondrial disease is a multisystem disorder resulting from mitochondrial dysfunction. Although musculoskeletal system is vulnerable to mitochondrial dysfunction, little information is available on orthopedic issues such as hip displacement and scoliosis in patients with mitochondrial disease. We aimed to examine the point prevalence of hip displacement and investigate the associated factors in patients with mitochondrial disease. We retrospectively reviewed the medical records and plain radiographs of patients diagnosed with mitochondrial disease between January 2006 and January 2019 at a single institution. Data, including patient age, sex, follow-up duration, syndromic diagnosis, and gross motor function were collected. Migration percentage was measured on the radiographs. The clinical and radiologic variables were compared between patients classified according to the presence of hip displacement and motor function level. We included 225 patients (135 men, 90 women). The mean age at the latest follow-up was 11.1 years, and the mean follow-up duration was 7.0 years. Hip displacement was noted in 70 (31.1%) patients. The proportion of patients with Leigh disease ( = 0.007) and the ratio of non-ambulators ( < 0.001) were higher among patients with hip displacement. The proportion of patients with Leigh disease was higher in the non-ambulators than the ambulators. One-third of patients with mitochondrial disease developed hip displacement. Hip displacement was more common in non-ambulators or patients with hypertonia. Careful and serial monitoring for hip problems is required for non-ambulatory patients with mitochondrial disease who have increased muscle tone.
线粒体疾病是一种由线粒体功能障碍引起的多系统疾病。尽管肌肉骨骼系统易受线粒体功能障碍影响，但关于线粒体疾病患者髋关节脱位和脊柱侧弯等骨科问题的信息却很少。我们旨在研究线粒体疾病患者髋关节脱位的现患率，并调查相关因素。我们回顾性分析了2006年1月至2019年1月在一家机构确诊为线粒体疾病的患者的病历和X线平片。收集了包括患者年龄、性别、随访时间、综合征诊断和粗大运动功能等数据。在X线片上测量移位百分比。比较了根据髋关节脱位情况和运动功能水平分类的患者的临床和放射学变量。我们纳入了225例患者（135例男性，90例女性）。最新随访时的平均年龄为11.1岁，平均随访时间为7.0年。70例（31.1%）患者存在髋关节脱位。髋关节脱位患者中Leigh病患者的比例（ = 0.007）和非步行者的比例（ < 0.001）更高。非步行者中Leigh病患者的比例高于步行者。三分之一的线粒体疾病患者发生了髋关节脱位。髋关节脱位在非步行者或肌张力亢进患者中更常见。对于肌张力增加的非步行线粒体疾病患者，需要对髋关节问题进行仔细和连续的监测。
