马凡综合征儿童诊断：早期识别的警示信号
本研究为回顾性研究，纳入129名疑似马凡综合征（MFS）的儿童，其中64名携带FBN1基因致病变异，65名基因检测正常。研究比较两组临床特征，发现携带有害变异的儿童更年轻（7.6±4.2岁 vs 11.2±4.5岁，p<0.001），且更常满足修订版Ghent标准（60.9% vs 1.5%）。主要预测因素包括身高百分位、主动脉根部z值≥2、家族史、臂展增加、后足畸形和晶状体异位。结论认为这些临床特征有助于儿科医生早期识别MFS。
要点
- 晶状体异位在确诊组发生率41%，对照组0%
核心结论
- 在临床上疑似MFS的儿童中，阳性家族史、主动脉根部z值升高、晶状体异位、身材高大、臂展增加和后足畸形是分子确诊MFS的重要预测因子
研究设计与样本
- 回顾性研究，纳入129名因疑似MFS接受基因检测的儿童，对比FBN1变异携带者（n=64）与基因检测正常者（n=65）的临床特征
主要发现
- 携带FBN1致病变异的儿童年龄更小（7.6±4.2岁 vs 11.2±4.5岁，p<0.001）
- 携带变异者更常满足修订版Ghent标准（60.9% vs 1.5%，p<0.001）
- 六个关键预测因素：身高百分位、主动脉根部z值、家族史、臂展、后足畸形、晶状体异位
临床怎么用
- 儿科医生遇到疑似MFS儿童时，应重点关注以上六个预测因素
- 满足多个危险因素时，建议及时转诊遗传咨询和基因检测
- 早期识别有助于预防性干预，降低心血管并发症风险
局限性
- 单中心回顾性设计，可能存在选择偏倚
- 样本量有限，部分置信区间较宽（如后足畸形）
- 研究仅针对临床疑似的儿童，不适用于普通人群筛查
以上解读依据论文摘要（全文未开放获取或许可不允许翻译转载）。
原文
Background Marfan syndrome (MFS) is a multisystemic disorder caused by pathogenic (P) variants in the fibrillin-1 gene ( FBN1 ), associated with life-threatening cardiovascular complications. Early diagnosis enables preventive interventions, yet recognition in children can be challenging. Objective To identify common diagnostic traits in children with MFS that may assist general paediatricians in the recognition of children with MFS and lead to early detection of the disease. Study design This retrospective study included 129 children who underwent genetic testing due to a suspicion of MFS. Personal and family history, clinical features and echocardiographic results were compared between those children where a (likely)P ((L)P) variant in FBN1 was found (n=64) and those with normal genetic testing (n=65). Results Children carrying a (L)P variant in FBN1 were significantly younger (7.6±4.2 years vs 11.2±4.5 years, p<0.001) and more often met the revised Ghent criteria based on clinical features (60.9% vs 1.5%, p<0.001). Six key predictors of MFS were identified: percentile height (OR 1.1 (CI 1.0 to 1.1), p<0.001), aortic root z-score ≥2 (OR 2.1 (CI 1.3 to 3.4), p=0.002), positive family history of aortic aneurysms/dissections (positive family history) (OR 8.0 (CI 1.7 to 37.0), p=0.008), increased arm-span (OR 21.0 (CI 1.0 to 443.1), p=0.050), hindfoot deformity (OR 145.7 (CI 7.7 to 2766.6), p<0.001) and ectopia lentis (EL)(41% vs 0%, p<0.001). Conclusions In children with clinically suspected MFS, a positive family history, increased aortic root z-score, EL, tall stature, increased arm-span and hindfoot deformity were significant predictors of a molecularly confirmed diagnosis of MFS.
引用
- Archives of Disease in Childhood：Diagnosis in children with Marfan syndrome: red flags for early identification
供执业医师工作参考，不替代临床判断；数值与分级以指南原文为准。