临床儿科杂志 ›› 2019, Vol. 37 ›› Issue (3): 200-.doi: 10.3969/j.issn.1000-3606.2019.03.010

• 综合报道 • 上一篇    下一篇

无痛无汗症患儿骨骼损伤临床特征分析

王庆利, 胡光俊, 谈世刚, 宋晓阳   

  1. 中国人民解放军中部战区总医院麻醉科(湖北武汉 430070)
  • 出版日期:2019-03-15 发布日期:2019-03-25
  • 通讯作者: 宋晓阳 电子信箱:songxiaoyang1234@163.com
  • 基金资助:
    湖北省卫计委青年人才基金资助项目(No.WJ2017H0040)

Investigation and analysis of clinical characteristics of bone damages in patients with congenital insensitivity to pain with anhidrosis

 WANG Qingli, HU Guangjun, TAN Shigang, SONG Xiaoyang   

  1. Department of Anesthesiology, Wuhan General Hospital of PLA, Wuhan 430070, Hubei, China
  • Online:2019-03-15 Published:2019-03-25

摘要: 目的 探讨无痛无汗症骨骼损伤的临床特征。方法 收集无痛无汗症病例23例,回顾性分析患者骨骼损伤 的首发年龄、发生部位、反复发生次数、原因、治疗及预后。结果 骨骼损伤多为无明显诱因的反复多部位发生,首发年龄 多在3~6岁,发生部位多在下肢。 6岁以上患者骨骼损伤发生率为100%。结论 无痛无汗症患者反复发生骨骼损伤,其原 因可能是NTRK1基因突变导致的骨骼发育不良。

关键词: 无痛无汗症; 骨折; 关节脱位; NTRK1基因

Abstract:  Objectives To explore the clinical features of skeletal injury in patients with congenital insensitivity to pain with anhidrosis (CIPA). Method The age at onset, location, number of recurrences, causes, treatment and prognosis of skeletal injury in patients were retrospectively analyzed. Results Most of the bone injuries occurred repeatedly in multiple places without obvious inducement. The age at onset being mostly from 3 to 6 years, and most of the injuries occurred in the lower limbs. The bone injury happened 100% in patients over 6 years old. Conclusion Repeated bone damage in patients with CIPA may be due to skeletal dysplasia caused by NTRK1 gene mutation.

Key words:  congenital insensitivity to pain with anhidrosis; fracture; dislocation; NTRK1 gene