新生儿先天性无痛无汗症临床诊治分析  

Clinical Diagnosis and Treatment of Neonatal Congenial Insensitivity to Pain with Anhidrosis

作　　者：叶红球[1] 彭小明[1] 张帆[1] 李笑[1] 颜卫群[1] 

机构地区：[1]湖南省儿童医院新生儿科,湖南长沙410007

出　　处：《医学与哲学（B）》2017年第9期42-45,共4页Medicine & Philosophy(B)

摘　　要：为总结先天性无痛无汗症(CIPA)的临床特点,提高对该病的认识,回顾分析1例CIPA患儿临床资料并检索相关文献。共46例患儿,男女比例约为2∶1,发病日龄(14±6)天,死亡4例,感觉障碍43例,发热38例,无汗38例,皮肤干燥29例,外伤及感染18例,智力障碍24例,自残16例,骨折及关节病变19例,视神经萎缩5例,抽搐4例,手术15例。CIPA新生儿期少见,主要表现为发热、无汗、无痛,生化指标基本正常,皮肤活检不能诊断,需行基因检测明确。目前无特殊治疗且预后不良,重在预防,避免近亲结婚,可行CIPA致病基因筛查。To summarize the congenial insensitivity to pain with anhidrosis（ CIPA） and to improve the understanding of the disease. 1 case of children with CIPA was analyzed retrospectively and the related literatures were retrieved. A total of 46 children were diagnosed,sexual proportion is 2： 1,age of onset（ 14 ± 6） days,4 deaths,43 of sensory disturbances,38 cases with fever,38 cases with anhidrosis,29 cases with dry skin,injury and infection in 18 cases,mental retardation in 24 cases,autotomy in 16 cases,fractures and joints lesions in 19 cases,optic nerve atrophy in 5 cases,convulsions in 4 cases,surgery in 15 cases.CIPA in neonatal is rare. Fever,anhidrosis,and insensitivity to pain are mainly manifestations,while biochemical indexes are normal.We can＇t rely on the skin biopsy and genetic testing needs to be done.There is no special treatment and also poor prognosis.Focus on prevention,avoid inbreeding,screening CIPA gene is feasible.

关 键 词：先天性无痛无汗症 新生儿 酪氨酸受体激酶基因 治疗 

分 类 号：R722[医药卫生—儿科]