背景:疼痛感知,远非病理机制,是防止额外伤害的关键保护性刺激。这个复杂系统中的任何干扰都会给个人带来重大风险,影响他们的生活质量甚至生存。
目的:本综述旨在探讨先天性疼痛不敏感,一种极其罕见的遗传性疾病,具有常染色体隐性模式,导致无法感知疼痛。我们将专注于众所周知的亚型,先天性对无汗症疼痛不敏感(CIPA)。我们的研究旨在通过全面的文献综述来更新现有知识。
方法:这篇综述采用了系统的文献综述,分析各种来源和科学文件,主要强调CIPA。审查遵循PROSPERO协议,在CRD42023394489下注册。文献检索是在Scopus上进行的,PubMed,和Cinahl数据库。
结果:我们的综述揭示了与CIPA相关的继发性并发症,比如复发性骨折,温度不敏感,自残,and,偶尔,智力残疾。有限的可用信息强调了扩大我们知识的必要性。
结论:总之,CIPA,特别是,提出了一个重大的医学挑战,对生活质量产生不利影响。早期诊断,家庭和医疗保健专业人员的教育,适当的护理是有效管理的关键。这篇综述强调了进一步研究和认识以加强对受影响者的支持的必要性。
BACKGROUND: Pain perception, far from being a pathological mechanism, is a crucial protective stimulus to prevent additional injuries. Any disturbance in this complex system poses significant risks to individuals, affecting their quality of life and even their survival.
OBJECTIVE: This review aims to explore congenital insensitivity to pain, an extremely rare genetic disorder with an autosomal recessive pattern that results in the inability to perceive pain. We will focus on the well-known subtype, congenital insensitivity to pain with anhidrosis (CIPA). Our research seeks to update existing knowledge through a comprehensive literature review.
METHODS: The review employs a systematic literature review, analyzing various sources and scientific documents, primarily emphasizing CIPA. The review follows the PROSPERO protocol, registered under CRD42023394489. The literature search was performed on the Scopus, PubMed, and Cinahl databases.
RESULTS: Our review reveals secondary complications associated with CIPA, such as recurrent bone fractures, temperature insensitivity, self-mutilation, and, occasionally, intellectual disabilities. The limited available information underscores the need for expanding our knowledge.
CONCLUSIONS: In summary, CIPA, particularly, presents a significant medical challenge with adverse impacts on quality of life. Early diagnosis, education for families and healthcare professionals, and appropriate nursing care are essential for effective management. This review highlights the necessity of further research and awareness to enhance support for those affected.