急诊科患者急性卟啉病的诊治思考：一例病例报告及常见误诊陷阱探讨
Consideration of Acute Porphyria in an Emergency Department Patient: A Case Report and Discussion of Common Pitfalls.
作者信息
Rios Anthony, Kehrberg Lisa, Davis Hillary E
机构信息
University of Tennessee, Department of Biochemistry, Knoxville, Tennessee.
University of Tennessee Medical Center, Department of Emergency Medicine, Knoxville, Tennessee.
出版信息
Clin Pract Cases Emerg Med. 2022 Nov;6(4):310-313. doi: 10.5811/cpcem.2022.9.57507.
INTRODUCTION
Porphyria refers to a group of disorders associated with defects in heme synthesis. They can be associated with severely debilitating features, including abdominal pain, psychiatric symptoms, neurological defects, and cardiovascular irregularities. Although these diseases are rare, patients with attacks often do present to the emergency department (ED) where consideration of porphyria is generally not included in the differential.
CASE REPORT
Here, we examine a case of a 16-year-old male who presented to our ED for evaluation of recurring abdominal pain and auditory hallucinations in which porphyria was considered by the emergency physician.
DISCUSSION
Not considering acute porphyria in patients with recurring neurovisceral symptoms in the ED can lead to missed opportunities for diagnosing such pathologies.
引言
卟啉症是指一组与血红素合成缺陷相关的疾病。它们可能伴有严重的衰弱症状，包括腹痛、精神症状、神经缺陷和心血管异常。尽管这些疾病很罕见，但发作期患者常前往急诊科就诊，而卟啉症通常不在鉴别诊断范围内。
病例报告
在此，我们研究一例16岁男性病例，该患者因反复腹痛和幻听前往我院急诊科就诊，急诊科医生考虑到了卟啉症。
讨论
在急诊科，对于有反复神经内脏症状的患者不考虑急性卟啉症可能会导致错过诊断此类疾病的机会。
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