无痛无汗症患儿骨骼损伤临床特征分析

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

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。

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.