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

Autor: Gu J; Medical College, Yangzhou University, Yangzhou, Jiangsu 225001, China. gjx69@163.com., Liu Z, Shi Y, Gu J
Jazyk: čínština
Zdroj: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2024 Sep 10; Vol. 41 (9), pp. 1139-1143.
DOI: 10.3760/cma.j.cn511374-20240112-00035
Abstrakt: 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 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.
Databáze: MEDLINE