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先天性无痛无汗症1例报道并文献复习
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Abstract:
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.
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