先天性无痛无汗症合并骨关节损伤一例报告  

Congenital insensitivity to pain with anhidrosis complicated with joint injury:a case report

作　　者：赵宝祥[1] 朱洪勋 Zhao Baoxiang;Zhu Hongxun(Department of Orthopaedics,Linyi People's Hospital,Linyi 276000,China)

机构地区：[1]山东省临沂市人民医院骨科,临沂276000

出　　处：《中华骨科杂志》2025年第6期376-379,共4页Chinese Journal of Orthopaedics

摘　　要：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。This article reports a rare case of a 24-year-old male with congenital insensitivity to pain with anhidrosis(CIPA)complicated by joint injuries.The patient has presented with an absence of pain sensation,anhidrosis,and recurrent lower extremity fractures since childhood,and has gradually developed severe bone and joint injuries in the lower extremities in adulthood.Combined with the medical history,physical examination,and imaging features,whole exome sequencing identified compound heterozygous pathogenic mutations in the NTRK1 gene:c.851-33T>A(maternal)and c.963del(paternal),consistent with an autosomal recessive inheritance pattern.Literature analysis indicates that NTRK1 mutations lead to abnormal nerve growth factor signaling,causing loss of pain sensation,autonomic nerve dysfunction,and recurrent self-harm behaviors,which in turn induce skeletal system complications such as fractures,hip dislocation,osteomyelitis,and infections.The imaging features are mainly characterized by bone resorption,joint deformities,and Charcot joints.The patient's synovial chondroma of the right knee joint is a rare CIPA.Currently,there is no cure for CIPA,and treatment focuses on injury prevention,anti-infection,and supportive care.Stem cell therapy and gene editing technology may be potential directions.Due to the lack of a pain protection mechanism,CIPA patients are prone to psychological problems and require multidisciplinary collaborative intervention.

关 键 词：痛觉缺失 先天性 外胚层发育不良症 少汗性 常染色体隐性 关节 创伤和损伤 

分 类 号：R681[医药卫生—骨科学]