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[青少年中与髋关节发育不良相关的夏科-马里-图思病]

[Charcot-Marie-Tooth disease associated with hip dysplasia in an adolescent].

作者信息

Langlais T, Leonard J-C, Ursu C, Morin C

机构信息

Service de chirurgie orthopédique pédiatrique, Institut Calot, Fondation Hopale, 62600 Berck-sur-Mer, France.

Service de chirurgie orthopédique pédiatrique, Institut Calot, Fondation Hopale, 62600 Berck-sur-Mer, France.

出版信息

Arch Pediatr. 2017 Jul;24(7):675-681. doi: 10.1016/j.arcped.2017.04.014. Epub 2017 Jun 7.

Abstract

Charcot-Marie-Tooth disease (CMT) is classified into hereditary motor and sensory neuropathy and can induce severe neuro-orthopaedics deformities, disabling at an early age. Hip dysplasia is present in 6% of CMT patients affecting preferentially CMT1 patients and can appear from the age of 8 years. The pathophysiological is paradoxical because we are confronted with proximal osteoarthritis deformations but genetics research brings use new trail. The main functional complaint is a hip joint pain during walking. Four orthopaedics abnormalities can be revealed by physical and radiological exam: acetabular dysplasia, femoral dysplasia, high femoral antetorsion and excentric head of femur. The natural evolution, in the absence of treatment, is an early secondary osteoarthritis. The therapeutic management should be as early as possible with preventive measures and joint health. During the symptomatic phase, the only treatment is a surgical correction. A systematic clinical examination of the hip all CMT children and a radiograph of the pelvis at the slightest clinical suspicion is recommended.

摘要

夏科-马里-图思病(CMT)被归类为遗传性运动和感觉神经病,可导致严重的神经骨科畸形,在早年就使人致残。6%的CMT患者存在髋关节发育不良,这在CMT1患者中更为常见,且8岁起就可能出现。其病理生理情况自相矛盾,因为我们面对的是近端骨关节炎畸形,但遗传学研究为我们带来了新线索。主要的功能主诉是行走时髋关节疼痛。体格检查和影像学检查可发现四种骨科异常:髋臼发育不良、股骨发育不良、股骨前倾角增大和股骨头偏心。在未经治疗的情况下,其自然发展是早期继发性骨关节炎。治疗管理应尽早采取预防措施并关注关节健康。在症状期,唯一的治疗方法是手术矫正。建议对所有CMT儿童进行髋关节系统临床检查,一旦有最轻微的临床怀疑,就对骨盆进行X光检查。

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