十五分钟会诊:先天性疼痛不敏感患儿的治疗方法

Muhamad Azamin Anuar, Emily Rose Whitehouse, Uma Varma, Gary McCullagh, Imelda Hughes
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摘要

遗传性感觉和自主神经病(HSANs)是一组罕见的遗传疾病,其特点是表型表现各异,同时影响感觉和自主神经功能障碍。由于这些疾病的症状多种多样,而且可能相互重叠,因此诊断起来非常困难。这往往导致转诊和诊断的延误。临床医生通常将疼痛作为全身性疾病的标志。HSAN 病症的主要特征是没有痛觉及其后果,如不明原因的损伤。当儿童出现不明原因的伤害时,必须考虑非意外伤害的诊断,但在极少数情况下,HSAN 也有可能是一种意外伤害。儿童 HSAN 的诊断既重要又罕见。本文旨在讨论 HSAN 的诊断和处理方法。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Fifteen-minute consultation: Approach to a child with congenital insensitivity to pain
The hereditary sensory and autonomic neuropathies (HSANs) are a group of rare genetic disorders characterised by variable phenotypic expression affecting both sensory and autonomic dysfunction. Diagnosing these conditions can be a challenge as the presenting symptoms can be diverse and may overlap. This often leads to a delay in referral and diagnosis. Pain is often used by clinicians as a marker for systemic diseases. The key feature of HSAN conditions is the absence of pain perception and its consequences such as unexplained injuries. When a child presents with an unexplained injury, a diagnosis of non-accidental injuries must be considered, but rarely HSAN could be a possibility. The diagnosis of HSANs in children is both important and rare. This article aims to discuss an approach to the diagnosis and management of HSANs.
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