综合报道

无痛无汗症患儿骨骼损伤临床特征分析

  • WANG Qingli ,
  • HU Guangjun ,
  • TAN Shigang ,
  • et al
展开
  • 中国人民解放军中部战区总医院麻醉科(湖北武汉 430070)

网络出版日期: 2019-03-25

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

  • 王庆利,胡光俊,谈世刚,等
Expand
  • Department of Anesthesiology, Wuhan General Hospital of PLA, Wuhan 430070, Hubei, China

Online 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。

本文引用格式

WANG Qingli , HU Guangjun , TAN Shigang , et al . 无痛无汗症患儿骨骼损伤临床特征分析[J]. 临床儿科杂志, 2019 , 37(3) : 200 . DOI: 10.3969/j.issn.1000-3606.2019.03.010

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.
文章导航

/