报告1例24岁男性先天性无痛无汗症(congenital insensitivity to pain with anhidrosis,CIPA)合并骨关节损伤病例。患者自幼表现为无痛觉、无汗症及反复下肢骨折,成年后逐渐发展为下肢严重骨关节损伤。结合病史、体格检查及影像学特征,经全外显子组基因检测发现患者携带NTRK1基因复合杂合致病性突变:c.851-33T>A(母源)和c.963del(父源),符合常染色体隐性遗传模式。文献分析表明,NTRK1基因突变导致神经生长因子信号传导异常,引发痛觉缺失、自主神经功能障碍及反复自残行为,进而诱发骨骼系统并发症,如骨折、髋关节脱位、骨髓炎及感染等。影像学特征以骨质溶解、关节畸形及Charcot关节为主。患者右膝关节滑膜软骨瘤为罕见的先天性无痛无汗症表现。目前,CIPA尚无根治方法,治疗以预防损伤、抗感染及支持护理为主,干细胞治疗与基因编辑技术有望成为潜在方向。CIPA患者因缺乏疼痛保护机制,易伴发心理问题,需多学科协作干预。
目的:探讨先天性无痛无汗证的临床特征及反复运动系统并发症的诊疗方法。方法:回顾性分析一例先天性无痛无汗症患儿的临床资料及检查结果,并复习相关文献。结果:患儿,女,6岁5月,皮肤皲裂,甲床残缺,反复骨折伴关节肿胀,临床诊断为先天性无痛无汗症。结论:先天性无痛无汗证的临床表现多样,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 features of congenital insensitivity to pain with anhidrosis and the diagnosis and treatment of recurrent motor system complications. Methods: The clinical data and examination results of a case of congenital insensitivity to pain with anhidrosis were retrospectively analyzed, and the related literature was reviewed. Results: The patient, female, 6 years old and 5 months old, had chapped skin, incomplete nail bed, repeated fractures with joint swelling, and was clinically diagnosed as congenital insensitivity to pain with anhidrosis. Conclusion: The clinical manifestations of congenital insensitivity to pain with anhidrosis are varied, and there is no cure at present. Prevention and treatment of complications is the main means to improve the survival rate of patients.
