一例年轻女士伪装成躯体形式障碍的复发性急腹症

R. Gomes
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摘要

急性间歇性卟啉(AIP)是一种罕见的常染色体显性遗传性代谢紊乱,有多种表现。它通常表现为短暂的胃肠道症状,随后是快速进行的暴发性神经综合征。这是一种神经系统紧急情况,模仿了许多其他精神和医学疾病,如果未经诊断和治疗,可能会致命。此外,以精氨酸血红素形式进行的特殊治疗并不普遍,而且成本非常高,因此高度临床怀疑、急性发作的早期诊断和管理以及预防进一步发作非常重要。在此,我们报告了一位23岁的已婚女护士,她在最后一次发作时出现复发性急腹症,需要频繁入院,并伴有抽搐。尿液中卟啉的存在证实了AIP的诊断。
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A Case of Recurrent Acute Abdomen in a Young Lady Masquerading as Somatoform Disorder
Acute intermittent porphyria (AIP) is a rare autosomal dominant hereditary metabolic disorder having protean manifestations. It usually presents with short duration of gastrointestinal symptoms followed by rapidly progressive fulminant neurological syndrome. It is a neurological emergency and mimics many other psychiatric and medical disorders and can be fatal if it remains undiagnosed and untreated. Further, specific treatment in the form of Heme arginate is not universally available and very costly, so high clinical suspicion and early diagnosis and management of acute attack and prevention of further attacks are very important. Here, we report a 23 years old married female nurse presenting with recurrent acute abdomen requiring frequent hospital admissions along with convulsion during her last attack. The presence of porphyrins in urine confirms the diagnosis of AIP.
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