林莞锋, 吴南, 王升儒, 杨阳, 仉建国. 马凡综合征相关脊柱畸形的研究进展[J]. 罕见病研究, 2023, 2(4): 476-482. DOI: 10.12376/j.issn.2097-0501.2023.04.003
引用本文: 林莞锋, 吴南, 王升儒, 杨阳, 仉建国. 马凡综合征相关脊柱畸形的研究进展[J]. 罕见病研究, 2023, 2(4): 476-482. DOI: 10.12376/j.issn.2097-0501.2023.04.003
LIN Guanfeng, WU Nan, WANG Shengru, YANG Yang, ZHANG Jianguo. Progress in the Research of the Spinal Deformity Related to Marfan Syndrome[J]. Journal of Rare Diseases, 2023, 2(4): 476-482. DOI: 10.12376/j.issn.2097-0501.2023.04.003
Citation: LIN Guanfeng, WU Nan, WANG Shengru, YANG Yang, ZHANG Jianguo. Progress in the Research of the Spinal Deformity Related to Marfan Syndrome[J]. Journal of Rare Diseases, 2023, 2(4): 476-482. DOI: 10.12376/j.issn.2097-0501.2023.04.003

马凡综合征相关脊柱畸形的研究进展

Progress in the Research of the Spinal Deformity Related to Marfan Syndrome

  • 摘要: 马凡综合征(MFS)是一种常染色体显性遗传性全身结缔组织疾病, 发病率为(2~3)/10 000, FBN1基因突变为其主要病因。约2/3的MFS患者合并脊柱畸形, 常表现为脊柱侧凸、胸椎前凸和腰椎后凸畸形、严重的脊柱滑脱、硬脊膜扩张和椎弓根营养不良相关等。MFS脊柱侧凸随年龄的增长而发展, 即使骨骼成熟后亦可能继续进展, 支具等保守治疗通常无效。建议对40°~45°以上的脊柱侧凸行手术治疗, 但由于MFS患者的特殊解剖结构, 硬脊膜漏、内固定失败等手术并发症和翻修手术并不少见。

     

    Abstract: Marfan syndrome(MFS) is an autosomal dominant systemic connective tissue disease. The incidence rate of MFS is about 2-3 per 10 000. Main cause of MFS is FBN1 gene mutation. About 2/3 of MFS patients have spinal deformities, showing symptoms of scoliosis, thoracic lordosis and lumbar kyphosis, severe spondylolisthesis, dural dilatation and pedicle dystrophy. MFS scoliosis develops with age and may continue even after bone maturation. Conservative treatments such as brace are usually ineffective. Surgical treatment of main curve > 40°-45 °is recommended, but due to the special anatomical structure of MFS patients, such surgical complications as dural leakage, failure of internal fixation and revision surgery are not uncommon.

     

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