Gu Jiajie, Liu Zekai, Shi Yihan, Gu Jiaxiang
Medical College, Yangzhou University, Yangzhou, Jiangsu 225001, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2024 Sep 10;41(9):1139-1143. doi: 10.3760/cma.j.cn511374-20240112-00035.
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.
先天性无痛觉伴无汗症（CIPA）是一种罕见疾病，主要影响婴儿、儿童和青少年。作为一种常染色体隐性疾病，CIPA也被称为家族性自主神经功能障碍2型。CIPA的诊断主要依靠临床观察和基因检测。目前缺乏有效的治疗方法，主要通过降温、抗炎和加强监护来治疗。本文回顾了相关文献，总结了关于CIPA的研究及其诊断和治疗进展，旨在提高对该疾病的认识。
