先天性无痛无汗症最新研究进展

Recent research progress of congenital insensitivity to pain with anhydrosis

先天性无痛无汗症(CIPA)是一种以无汗和对疼痛刺激不敏感为基本特征的罕见的隐性遗传性疾病,出生即有发育缺陷,死亡率高,人群发病率极低。近年来随着临床诊疗技术和遗传学的发展,国内外不断有一些CIPA病例和遗传学研究被报道。本文将根据近几年的文献报道,从该病的临床表现、发病机制、诊断与鉴别诊断、治疗等方面对该病进行概述,以加强临床医生和科研人员对该病的认识,为提高疾病的精准诊断提供理论参考,以期早日实现该病的靶向治疗,进而实现优生优育提高人口素质。

Congenital insensitivity to pain with anhydrosis(CIPA) is a rare inherited autosomal recessive disorder characterized by insensitivity to noxious stimuli, anhidrosis. It is born with developmental defects, high mortality and low incidence rate in the population. In recent years, some CIPA cases and genetic studies have been reported at home and abroad under the development of clinical diagnosis and treatment technology and genetics. To strengthen the understanding of clinicians and researchers of the disease and provide theoretical reference to improve the accurate diagnosis of the disease, the reviews were reported from the clinical manifestations, pathogenesis, diagnosis and differential diagnosis and treatment of the disease in recent years. In order to realize the targeted treatment of the disease as soon as possible, and prenatal care was achieved to improve the quality of the population.