先天性无痛无汗症1例并文献复习

Congenital insensitivity to pain with anhidrosis:A case report and literature review

目的探讨先天性无痛无汗症的临床特点及诊疗方法。方法回顾性分析1例先天性无痛无汗症患者的临床资料及基因检测结果,并复习相关文献。结果患儿,女,10岁,皮肤粗糙、反复骨折伴左膝关节肿胀3年。临床特点为皮肤粗糙、对痛觉不敏感、口腔溃疡、指(趾)甲缺如、左膝夏科关节、左膝轻度外翻、反复摔伤骨折、反复发热。基因测序结果提示患儿为NTRK1基因C.575-19G>A纯合变异。诊断为先天性无痛无汗症。结论先天性无痛无汗症临床表现多样,目前尚无根治方法,防治并发症是提高患者生存率的主要手段。

Objective To investigate the clinical characteristics,diagnosis and treatment of congenital insensitivity to pain with anhidrosis.Methods The clinical data and gene detection results of a patient with congenital insensitivity to pain with anhidrosis in our hospital was analyzed retrospectively.The related literature were reviewed and summarized.Results A 10-year-old female patient had rough skin,repeated fractures and swelling of the left knee joint for 3 years.The clinical features are rough skin,insensitivity to pain,oral ulcer,absence of finger(toe)nail,Charcot joint of left knee,slight valgus of left knee,repeated falls and fractures,and repeated fever.The results of gene sequencing indicated that the patient had a homozygous variation of C.575-19G>A of NTRK1 gene.She was diagnosed as congenital insensitivity to pain with anhidrosis.Conclusion There are various clinical manifestations of congenital insensitivity to pain with anhidrosis,and there is no radical cure.Prevention and treatment of complications is the main method to improve the survival rate of these patients.