先天性痛觉迟钝和无汗症的根源和命运:一种人类表型

R. R. K, Surabhi K. S., F. S. H., T. D. R., Robin George
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引用次数: 0

摘要

先天性疼痛不敏感是一种罕见的神经系统疾病,其特点是无法感知身体疼痛。先天性痛觉不敏感症患者对有害刺激缺乏典型的痛觉反应,这给他们的安全和福祉带来了巨大挑战。这种疾病通常是由于基因突变影响了神经系统传递疼痛信号的能力。尽管没有痛觉具有明显的优势,但 CIP 会带来严重的风险,因为患者可能会在不知情的情况下受伤或出现医疗并发症而得不到及时干预。痛觉的缺失会阻碍学习保护行为和对潜在有害情况的反应,使日常活动充满危险。通过了解 CIP 的遗传基础,人们对痛觉和痛觉通路的功能有了宝贵的认识。虽然这些知识可以为潜在的治疗干预铺平道路,但 CIP 的管理仍然是一项复杂的任务。本文概述了 CIPA、其遗传基础、临床表现、并发症、治疗以及与管理这一复杂病症相关的挑战。涉及遗传咨询、疼痛管理和专业护理的多学科方法对于支持 CIPA 患者并改善其整体健康状况至关重要。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Roots and fates of congenital insensitivity to pain and anhidrosis: a human phenotype
Congenital insensitivity to pain is a rare neurological disorder characterized by the inability to perceive physical pain. Individuals with CIP lack the typical nociceptive responses to harmful stimuli, which poses significant challenges to their safety and well-being. This condition is often caused by genetic mutations affecting the nervous system's ability to transmit pain signals. Despite the apparent advantage of not experiencing pain, CIP presents severe risks as affected individuals may unknowingly sustain injuries or develop medical complications without timely intervention. The absence of pain perception hinders the learning of protective behaviour and responses to potentially harmful situations, making daily activities fraught with danger. Understanding the genetic basis of CIP has provided valuable insights into pain perception and the functioning of nociceptive pathways. While this knowledge may pave the way for potential therapeutic interventions, managing CIP remains a complex task. This article provides an overview of CIPA, its genetic basis, clinical manifestations, complications, treatment and the challenges associated with managing this complex condition. A multidisciplinary approach involving genetic counselling, pain management, and specialized care is crucial to support individuals with CIPA and improve their overall well-being.    
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