de Reuver Steven, Homans Jelle F, Schlösser Tom P C, Houben Michiel L, Deeney Vincent F X, Crowley Terrence B, Stücker Ralf, Pasha Saba, Kruyt Moyo C, McDonald-McGinn Donna M, Castelein René M
Department of Orthopaedic Surgery, University Medical Center Utrecht, 3584CX Utrecht, The Netherlands.
Department of Pediatrics, Wilhelmina Children's Hospital, University Medical Center Utrecht, 3584CX Utrecht, The Netherlands.
J Clin Med. 2021 Oct 20;10(21):4823. doi: 10.3390/jcm10214823.
To better understand the etiology of idiopathic scoliosis, prospective research into the pre-scoliotic state is required, but this research is practically impossible to carry out in the general population. The use of 'models', such as idiopathic-like scoliosis established in genetically modified animals, may elucidate certain elements, but their translatability to the human situation is questionable. The 22q11.2 deletion syndrome (22q11.2DS), with a 20-fold increased risk of developing scoliosis, may be a valuable and more relevant alternative and serve as a human 'model' for idiopathic scoliosis. This multicenter study investigates the morphology, dynamic behavior, and presence of intraspinal anomalies in patients with 22q11.2DS and scoliosis compared to idiopathic scoliosis. Scoliosis patients with 22q11.2DS and spinal radiography ( = 185) or MRI ( = 38) were included (mean age 11.6 ± 4.2; median Cobb angle 16°) and compared to idiopathic scoliosis patients from recent literature. Radiographic analysis revealed that 98.4% of 22q11.2DS patients with scoliosis had a curve morphology following predefined criteria for idiopathic curves: eight or fewer vertebrae, an S-shape and no inclusion of the lowest lumbar vertebrae. Furthermore, curve progression was present in 54.2%, with a mean progression rate of 2.5°/year, similar to reports on idiopathic scoliosis with 49% and 2.2-9.6°/year. The prevalence of intraspinal anomalies on MRI was 10.5% in 22q11.2DS, which is also comparable to 11.4% reported for idiopathic scoliosis. This indicates that 22q11.2DS may be a good model for prospective studies to better understand the etiology of idiopathic scoliosis.
为了更好地理解特发性脊柱侧凸的病因，需要对脊柱侧凸前期状态进行前瞻性研究，但在普通人群中实际上无法开展此类研究。使用“模型”，如在基因改造动物中建立的特发性脊柱侧凸样模型，可能会阐明某些因素，但其与人类情况的可转化性存在疑问。22q11.2缺失综合征（22q11.2DS）发生脊柱侧凸的风险增加20倍，可能是一种有价值且更相关的替代方案，并可作为特发性脊柱侧凸的人类“模型”。这项多中心研究调查了22q11.2DS合并脊柱侧凸患者与特发性脊柱侧凸患者相比的形态学、动态行为及椎管内异常情况。纳入了接受脊柱X线摄影（n = 185）或MRI检查（n = 38）的22q11.2DS脊柱侧凸患者（平均年龄11.6±4.2岁；Cobb角中位数为16°），并与近期文献中的特发性脊柱侧凸患者进行比较。影像学分析显示，98.4%的22q11.2DS脊柱侧凸患者的曲线形态符合特发性曲线的预定义标准：累及八个或更少椎体、呈S形且未包括最低位腰椎椎体。此外，54.2%的患者存在曲线进展，平均进展率为每年2.5°，这与特发性脊柱侧凸的报道相似，特发性脊柱侧凸的进展率分别为49%和每年2.2 - 9.6°。22q11.2DS患者MRI上椎管内异常的患病率为10.5%，这也与特发性脊柱侧凸报道的11.4%相当。这表明22q11.2DS可能是进行前瞻性研究以更好理解特发性脊柱侧凸病因的良好模型。
