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

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.