Department of Pediatric Orthopaedic Surgery, Hôpital des Enfants, Toulouse, France.
Spine (Phila Pa 1976). 2010 Aug 1;35(17):1602-6. doi: 10.1097/BRS.0b013e3181c7d28a.
Prospective comparative study on 100 patients with positive family history for idiopathic scoliosis.
To evaluate the concordance rate for curve pattern and side in family members with idiopathic scoliosis.
The pathogenesis of idiopathic scoliosis has been the subject of extensive research. It is termed multifactorial with a genetic component. Similar curve shape has been reported in twins with idiopathic scoliosis.
We included prospectively 100 patients with idiopathic scoliosis when a relative of them was also affected with idiopathic scoliosis, and spine radiographs were available for both. Concordance for curve pattern by Lenke classification and side between family members was analyzed.
Familial concordance rate for curve pattern and side was 66% (95% confidence interval, 57-75), whereas the expected random concordance rate was 26% (95% confidence interval, 17-34). The affected relative was in 27 cases a sibling, in 32 cases a parent, in 1 case an uncle, in 2 cases a cousin, in 2 cases a half sister, in 2 cases a grandmother. Concordance rate was 65% (27/42) in siblings' pairs and 67% (32/48) in parents/child's pairs.
We report a high concordance rate for curve pattern and side between relatives with idiopathic scoliosis. Curve shape is likely to be genetically determined in familial scoliosis. It seems important that curve type is documented and considered in future genetic studies.
100 例特发性脊柱侧凸阳性家族史患者的前瞻性对比研究。
评估特发性脊柱侧凸患者家族成员脊柱侧凸曲线形态和侧别一致性。
特发性脊柱侧凸的发病机制一直是广泛研究的课题。它被认为是一种具有遗传成分的多因素疾病。特发性脊柱侧凸双胞胎的曲线形状相似。
我们前瞻性纳入了 100 例特发性脊柱侧凸患者，当他们的亲属也患有特发性脊柱侧凸时，对其脊柱侧凸患者进行了分析，并为他们拍摄了脊柱侧凸患者的 X 光片。分析家族成员间 Lenke 分类曲线形态和侧别一致性。
家族成员间曲线形态和侧别一致性率为 66%（95%置信区间，57-75），而随机一致性率预计为 26%（95%置信区间，17-34）。受影响的亲属在 27 例中为兄弟姐妹，在 32 例中为父母，在 1 例中为叔叔，在 2 例中为表亲，在 2 例中为同父异母或同母异父的姐妹，在 2 例中为祖母。兄弟姐妹对的一致性率为 65%（27/42），父母/子女对的一致性率为 67%（32/48）。
我们报告了特发性脊柱侧凸患者家族成员间曲线形态和侧别高度一致。家族性脊柱侧凸的曲线形状可能与遗传有关。在未来的遗传研究中，记录和考虑曲线类型似乎很重要。
