Department of Orthopaedic Surgery, University Medical Center, University of Groningen, Groningen, The Netherlands.
Department of Surgery, University Medical Center, University of Groningen, Groningen, The Netherlands.
Eur Spine J. 2022 Sep;31(9):2295-2300. doi: 10.1007/s00586-022-07260-5. Epub 2022 May 23.
Osteogenesis Imperfecta (OI) is a rare group of congenital genetic disorders that consists of a collagen synthesis defect. The most severe phenotype is type III OI. Characterized by progressive bone deformity, fragility and pulmonary impairment, causing significant morbidity and mortality. Also, multilevel spine deformities are observed, such as scoliosis. The literature on the pathophysiology of pulmonary impairment in relation to scoliosis in these patients is scarce and conflicting. This study aims to determine the prevalence of scoliosis and its relation to pulmonary function in type III OI patients.
This retrospective cohort study took place between April 2020 and November 2021. Forty-two patients with type III OI were included. Anterior-posterior spine radiographs were evaluated for scoliosis. Pulmonary function was assessed using spirometry and partial pressure of carbon dioxide.
All 42 patients had scoliosis, with a mean curve of 66° (95% CI of range). Vital lung capacity was decreased, compared to a non-OI population (mean 1.57 L). This was correlated to the degree of scoliosis (st. β - 0.40, P = 0.03), especially in increasing thoracic curves. Restrictive lung pathophysiology was shown in our study population with a mean FEV1/FVC ratio of 0.85.
Increasing thoracic scoliosis was correlated with decreased vital lung capacity in our study population of type III OI patients. High FEV1/FVC ratios found in this study population show restrictive lung pathophysiology. Therefore, it is plausible that the pulmonary impairment found in type III OI patients is a combined issue, partly associated to scoliosis and partly intrinsic to OI.
成骨不全症（OI）是一组罕见的先天性遗传疾病，其特征为胶原合成缺陷。最严重的表型是 III 型 OI。其特点是进行性骨骼畸形、脆弱和肺部损害，导致显著的发病率和死亡率。此外，还观察到多节段脊柱畸形，如脊柱侧凸。关于这些患者脊柱侧凸与肺部损害之间的病理生理学的文献很少且相互矛盾。本研究旨在确定 III 型 OI 患者脊柱侧凸的患病率及其与肺功能的关系。
这是一项回顾性队列研究，于 2020 年 4 月至 2021 年 11 月进行。共纳入 42 例 III 型 OI 患者。评估脊柱前后位 X 线片以确定脊柱侧凸。使用肺活量计和二氧化碳分压评估肺功能。
所有 42 例患者均存在脊柱侧凸，平均曲线为 66°（范围的 95%CI）。与非 OI 人群相比，肺活量明显降低（平均 1.57L）。这与脊柱侧凸的程度相关（st.β-0.40，P=0.03），尤其是在进行性胸椎曲度增加的情况下。我们的研究人群显示出限制性肺病理生理学，FEV1/FVC 比值平均为 0.85。
在我们的 III 型 OI 患者研究人群中，进行性胸椎脊柱侧凸与肺活量减少相关。在本研究人群中发现的高 FEV1/FVC 比值表明存在限制性肺病理生理学。因此，III 型 OI 患者中发现的肺部损害可能是一个综合问题，部分与脊柱侧凸有关，部分与 OI 本身有关。
