Department of Orthopedic Surgery, Aichi Children's Health and Medical Center, Obu, Japan.
Department of Comprehensive Pediatric Medicine, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Medicine (Baltimore). 2022 Sep 9;101(36):e30521. doi: 10.1097/MD.0000000000030521.
Osteogenesis imperfecta (OI) is a connective tissue disorder characterized by bone fragility. Although the disease severity is known to influence the ability to walk, little is known about how children with severe OI can achieve practical ambulation (PA). This study aimed to determine the early predictors of future mobility in children with OI. Thirty OI patients with an average age of 12.1 years were classified into the PA group (22 patients) and nonambulator group (NA group: 8 patients) on the basis of the Hoffer classification. Various clinical parameters related to mobility were compared between the PA and NA groups. Therapeutic interventions were also compared between the 2 groups. The mean age at diagnosis and initial fracture were significantly lower in the NA group than in the PA group. The height was significantly smaller in the NA group than in the PA group at all ages examined (at birth, 3 years, and 6 years). The number of patients with respiratory failure was significantly higher in the NA group than in the PA group. The age at initial corrective osteotomy of the lower extremities in the PA group was significantly lower than that in the NA group, although there was no significant difference in the disease severity in infancy between the groups. Height during infancy, age at initial fracture, and neonatal respiratory status could be prognostic factors for mobility in OI. Surgical interventions at an early age may influence walking ability in children with moderate OI.
成骨不全症(OI)是一种以骨骼脆弱为特征的结缔组织疾病。虽然疾病严重程度已知会影响行走能力,但对于严重 OI 患儿如何实现实际步行能力(PA)知之甚少。本研究旨在确定 OI 患儿未来移动能力的早期预测因素。根据 Hoffer 分类,将 30 名平均年龄为 12.1 岁的 OI 患者分为 PA 组(22 名患者)和非步行组(NA 组:8 名患者)。比较 PA 组和 NA 组之间与移动性相关的各种临床参数。还比较了两组之间的治疗干预措施。NA 组的诊断年龄和初始骨折的平均年龄明显低于 PA 组。在所有检查的年龄(出生时、3 岁和 6 岁),NA 组的身高明显小于 PA 组。在 NA 组中,呼吸衰竭的患者明显多于 PA 组。PA 组下肢初始矫正截骨术的年龄明显低于 NA 组,尽管两组婴儿期疾病严重程度无明显差异。婴儿期的身高、初次骨折年龄和新生儿呼吸状况可能是 OI 患儿移动能力的预后因素。早期手术干预可能会影响中度 OI 患儿的行走能力。