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

VernacularTitle:先天性无痛无汗症诊治的进展
Author: Jiajie GU ¹ ; Zekai LIU ; Yihan SHI ; Jiaxiang GU
Author Information

1. 扬州大学医学院，扬州　225001
Keywords: Congenital insensitivity to pain with anhidrosis; Genetics; Gene; Diagnosis; Treatment
From: Chinese Journal of Medical Genetics 2024;41(9):1139-1143
CountryChina
Language:Chinese
Abstract: 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.