急性间歇性卟啉症:诊断难题。

IF 1 Q3 MEDICINE, GENERAL & INTERNAL
Cureus Pub Date : 2024-10-26 eCollection Date: 2024-10-01 DOI:10.7759/cureus.72419
Vijay Balaji Vadivel, Simran Lamba
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引用次数: 0

摘要

本病例报告介绍了一名 20 岁女性患者的病例,她因剧烈腹痛、恶心呕吐、心动过速、高血压和尿液变色而急诊就医。初步诊断评估未发现明显异常,但随后的分析显示尿卟啉原升高,证实了急性间歇性卟啉症(AIP)的诊断。该患者的病史包括反复尿路感染、抗利尿激素分泌失调综合征(SIADH)以及焦虑和抑郁等精神并发症。治疗包括多方面的方法,包括水合和镇痛等支持性疗法,同时必须避免使用禁忌的药物。在转诊至国家急性卟啉症服务机构(NAPS)后,患者接受了精氨酸血红蛋白静脉注射,临床症状有所改善,随后出院。然而,由于类似症状再次出现,她不得不再次住院治疗。本病例突出表明,对于出现非特异性症状的年轻女性,必须高度怀疑其是否患有 AIP。此外,它还强调了早期专科干预对避免急性发作相关严重后遗症的极端重要性。在急诊医学科内开展有针对性的教育活动,对于提高人们对这一罕见而重要疾病的认识、促进及时诊断和管理至关重要。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Acute Intermittent Porphyria: A Diagnostic Conundrum.

This case report presents the case of a 20-year-old female patient who sought emergency medical attention for severe abdominal pain, nausea and vomiting, tachycardia, hypertension, and discolored urine. Initial diagnostic evaluations yielded no significant abnormalities; however, subsequent analysis revealed elevated urinary porphobilinogen, corroborating a diagnosis of acute intermittent porphyria (AIP). The patient's medical history included recurrent urinary tract infections and a prior episode of syndrome of inappropriate antidiuretic hormone secretion (SIADH), in conjunction with psychiatric comorbidities of anxiety and depression. Management encompassed a multifaceted approach involving supportive therapies, such as hydration and analgesia, alongside the imperative to abstain from using contraindicated pharmacological agents. Following referral to the National Acute Porphyria Service (NAPS), the patient received intravenous Haem arginate, resulting in clinical improvement and subsequent discharge. Nonetheless, she later necessitated further hospitalization due to the recurrence of similar symptoms. This case highlights the exigency of recognizing AIP in young women presenting with nonspecific symptoms, necessitating a high index of clinical suspicion. Furthermore, it accentuates the critical importance of early specialist intervention to avert severe sequelae associated with acute episodes. The integration of targeted educational initiatives within Acute Medicine departments is paramount for fostering awareness and facilitating prompt diagnosis and management of this rare yet significant disorder.

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