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...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.展开更多
目的分析1例以早发、反复骨折为主要表现的先天性无痛无汗症(congenital insensitivity to pain with anhidrosis,CIPA)患者的临床特点,并对患者及其家系进行致病基因突变研究。方法纳入1例幼年起病,以反复轻微外力下骨折、无汗、痛觉...目的分析1例以早发、反复骨折为主要表现的先天性无痛无汗症(congenital insensitivity to pain with anhidrosis,CIPA)患者的临床特点,并对患者及其家系进行致病基因突变研究。方法纳入1例幼年起病,以反复轻微外力下骨折、无汗、痛觉减退为主要表现的儿童患者,评估其骨转换生化指标、骨密度、骨骼X线特点;采用聚合酶链反应及其产物直接Sanger测序法检测神经营养性酪氨酸激酶受体1基因(neurotrophic tyrosine kinase receptor type 1,NTRK1)突变。结果先证者主要表现为反复无痛性骨折、痛觉减退、无汗、反复高热等,影像学提示骨折部位出现肥厚性骨痂,血清骨吸收指标轻度升高,腰椎骨密度稍降低。基因检测提示患者存在NTRK1基因第7内含子c.IVS7-33T>A和第17外显子c.2281C>T(Arg761Trp)复合杂合突变,其父母亲分别为上述突变基因携带者。结论先天性无痛无汗症十分罕见,其可引起反复无痛性骨折,NTRK1基因突变是疾病的主要致病原因。通过对患者临床表现及分子遗传学分析,可以提高对CIPA骨骼表现的认识及该病的诊治水平。展开更多
先天性无痛无汗症（Congenital insensitivity to pain with anhidrosis，CIPA）又称遗传性感觉自律性神经病Ⅳ型，是一种罕见疾病，目前国内外报道例数仅数十例。我科2010年11月收治1例先天性无痛无汗症合并外伤性髋关节脱位患儿，现...先天性无痛无汗症（Congenital insensitivity to pain with anhidrosis，CIPA）又称遗传性感觉自律性神经病Ⅳ型，是一种罕见疾病，目前国内外报道例数仅数十例。我科2010年11月收治1例先天性无痛无汗症合并外伤性髋关节脱位患儿，现将护理体会介绍如下。展开更多
先天性无痛无汗症（congenital insensitivity topain with anhidrosis,CIPA）是一种罕见遗传性感觉自主神经障碍,主要表现为先天性全身性痛觉缺失,常合并无汗、智力发育迟缓等,并可引发骨关节的破坏性改变即神经性关节病（Charcot关节...先天性无痛无汗症（congenital insensitivity topain with anhidrosis,CIPA）是一种罕见遗传性感觉自主神经障碍,主要表现为先天性全身性痛觉缺失,常合并无汗、智力发育迟缓等,并可引发骨关节的破坏性改变即神经性关节病（Charcot关节病）。既往文献对CIPA伴神经性关节病的报道较少。我院收治CIPA伴Charcot脊柱病1例,报道如下。展开更多
文摘目的: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.
文摘先天性无痛无汗症(congenital insensitivity to pain with anhidrosis,CIPA)是一种以痛觉不敏感和无汗为主要特征,伴有反复发热、关节脱位、骨折、感染及智力障碍等表现的罕见病^([1-4]),其发病率约为1∶600000~1∶950000^([3])。
文摘目的分析1例以早发、反复骨折为主要表现的先天性无痛无汗症(congenital insensitivity to pain with anhidrosis,CIPA)患者的临床特点,并对患者及其家系进行致病基因突变研究。方法纳入1例幼年起病,以反复轻微外力下骨折、无汗、痛觉减退为主要表现的儿童患者,评估其骨转换生化指标、骨密度、骨骼X线特点;采用聚合酶链反应及其产物直接Sanger测序法检测神经营养性酪氨酸激酶受体1基因(neurotrophic tyrosine kinase receptor type 1,NTRK1)突变。结果先证者主要表现为反复无痛性骨折、痛觉减退、无汗、反复高热等,影像学提示骨折部位出现肥厚性骨痂,血清骨吸收指标轻度升高,腰椎骨密度稍降低。基因检测提示患者存在NTRK1基因第7内含子c.IVS7-33T>A和第17外显子c.2281C>T(Arg761Trp)复合杂合突变,其父母亲分别为上述突变基因携带者。结论先天性无痛无汗症十分罕见,其可引起反复无痛性骨折,NTRK1基因突变是疾病的主要致病原因。通过对患者临床表现及分子遗传学分析,可以提高对CIPA骨骼表现的认识及该病的诊治水平。
文摘先天性无痛无汗症（congenital insensitivity topain with anhidrosis,CIPA）是一种罕见遗传性感觉自主神经障碍,主要表现为先天性全身性痛觉缺失,常合并无汗、智力发育迟缓等,并可引发骨关节的破坏性改变即神经性关节病（Charcot关节病）。既往文献对CIPA伴神经性关节病的报道较少。我院收治CIPA伴Charcot脊柱病1例,报道如下。
