双胞胎青少年特发性脊柱侧凸的发病特点

Clinical features of twins with adolescent idiopathic scoliosis

中文关键词:  青少年特发性脊柱侧凸  同卵双胞胎  异卵双胞胎  遗传学

英文关键词:Adolescent idiopathic scoliosis  Monozygotic twins  Dizygotic twins  Genetics

中文摘要:

  【摘要】 目的：观察青少年特发性脊柱侧凸（adolescent idiopathic scoliosis，AIS）双胞胎的共同发病率，比较同卵双胞胎之间的发病特点。方法：2007年1月~2016年12月期间我院收录同时患有AIS的双胞胎患者21对，其中女19对（含三胞胎1例），男2对，记录其初诊年龄、女性月经初潮年龄、BMI、Cobb角、胸椎后凸角、腰椎前凸角、Risser征等资料。通过短串联重复序列检测明确区分同卵双胞胎与异卵双胞胎，比较同卵双胞胎和异卵双胞胎的AIS共同发病率。选取同卵双胞胎中两人Cobb角差值≥10°的病例，将其中度数大者纳入侧凸较大组，度数小者纳入侧凸较小组，采用配对样本t检验比较两组之间初潮年龄、BMI、Risser征临床资料的差异。结果：21对双胞胎平均初诊年龄13.2±2.5岁，女性月经初潮年龄12.2±1.4岁，初诊时平均Cobb角29.2°±14.8°，胸椎后凸角16.8°±9.2°，腰椎前凸角45.5°±7.4°，BMI 17.0±1.6kg/m2，Risser征2.3±1.6。21对双胞胎中同卵双胞胎17对，异卵双胞胎4对。同卵双胞胎中16对（94.1%）共同患有AIS，11对（68.8%）弯型一致，4对（25.0%）Cobb角差值小于10°。异卵双胞胎中3对（75.0%）共同患有AIS，1对（33.3%）弯型一致，1对（33.3%）Cobb角差值小于10°。同卵双胞胎中Cobb角差值≥10°者12对，侧凸较大组的月经初潮年龄和BMI均小于侧凸较小组（P<0.05），Risser征两组之间无统计学差异（P＞0.05）。结论：同卵双胞胎AIS患者共同发病率较高（94.1%）且弯型一致，但同卵双胞胎两者间畸形严重程度不一，双胞胎中畸形较重者的月经初潮年龄较小、BMI较低。

英文摘要:

  【Abstract】 Objectives: To investigate the concordance for adolescent idiopathic scoliosis(AIS) in monozygotic and dizygotic twins, and to study the clinical features of monozygotic twins with AIS. Methods: From January 2007 to December 2016, twenty-one pairs(19 female pairs, 2 male pairs) of AIS twins were included from our spine center. The clinical and radiographical data were recorded at first visit including age, menarche, BMI, Cobb angle, thoracic kyphosis, lumbar lordosis and Risser sign, etc. Zygosity was determined by short tandem repeat analysis(STR). The concordance rate of AIS was compared between monozygotic and dizygotic twins. The two monozygotic twins in each pair were classified into severe group or mild group according to their severity of curve, and clinical data were compared between the two groups by using paired t-test. Results: The average age was 13.2±2.5 years, the mean Cobb angle was 29.2°±14.8°, thoracic kyphosis was 16.8°±9.2°, lumbar lordosis was 45.5°±7.4°, menarche age was 12.2±1.4 years, Risser sign was 2.3±1.6, BMI was 17.0±1.6kg/m2. Short tandem repeat analysis confirmed that 17 pairs were monozygotic and 4 pairs were dizygotic. For monozygotic twins, the concordance of AIS was 94.1%, 11 pairs(68.8%) had the similar curve patterns, the difference of Cobb angle between the two twins less than 10° was observed in 4 pairs(25.0%). For dizygotic twins, the concordance of AIS was 75.0%, 1 pair(33.3%) had the similar curve pattern, the difference of Cobb angle between the two twins less than 10° was observed in 1 pair(33.3%). Among the 12 pairs of monozygotic twins concordant for AIS with Cobb angle difference ≥10°, the severe group had younger age at menarche and lower BMI than the mild group(P<0.05). Conclusions: Monozygotic twins with AIS have higher concordance rate(94.1%) and curve pattern similarity, but lower curve severity similarity. The more severe one in the twins has smaller menarche age and lower BMI.