先天性无痛无汗症诊治的进展  

Progress in the diagnosis and treatment of Congenital insensitivity to pain with anhidrosis

作　　者：顾嘉颉 刘泽楷 时易涵 顾加祥 Gu Jiajie;Liu Zekai;Shi Yihan;Gu Jiaxiang(Medical College,Yangzhou University,Yangzhou,Jiangsu 225001,China;Nanjing Medical University,Nanjing,Jiangsu 210029,China;Deparment of Hand and Foot Surgery,Subei People′s Hospital of Yangzhou University,Yangzhou,Jiangsu 225001,China)

机构地区：[1]扬州大学医学院,扬州225001 [2]南京医科大学,南京210029 [3]扬州大学附属苏北人民医院手足显微外科,扬州225001

出　　处：《中华医学遗传学杂志》2024年第9期1139-1143,共5页Chinese Journal of Medical Genetics

摘　　要：先天性无痛无汗症(CIPA)是一种罕见的疾病,主要的发病人群为婴幼儿、儿童和青少年。作为一种常染色体隐性遗传病,CIPA又称家族性自主神经功能异常2型,其诊断主要依靠临床观察和基因检测。该病目前尚无有效的治疗方法,主要通过降温、抗炎等对症处理和加强监护。本文回顾了该病的相关文献,总结对其的研究进展,以期提高临床医师对于该病的认识。Congenital insensitivity to pain with anhidrosis(CIPA)is a rare disease which mainly affects infants,children and adolescents.As an autosomal recessive disorder,CIPA is also known as familial autonomic dysfunction type 2.The diagnosis of CIPA mainly relies on clinical observation and genetic testing.Currently there is a lack of effective treatment,and it is mainly treated by cooling,anti-inflammatory and strengthened guardianization.This article has reviewed the literature and summarized the research on CIPA and progress made in its diagnosis and treatment,with an aim to improve the understanding of this disorder.

关 键 词：先天性无痛无汗症 基因 遗传 诊断 治疗 

分 类 号：R725.9[医药卫生—儿科]