卟啉病表现为反复腹痛一例

Porphyria Performed as Recurrent Abdominal Pain: A Case Report

卟啉病是血红素合成途径中由于酶缺乏引起的一组疾病,表现为卟啉或其前体〔如δ-氨基-γ-酮戊酸(ALA)和卟胆原(PBG)〕生成增多,浓度异常升高,并在组织中蓄积,由尿和粪中排出。卟啉病在临床上少见,且症状多样,极易误诊。故临床上对不明原因的反复腹痛伴周围型神经损害,且症状重、体征轻、不能用常见病解释的患者,应想到卟啉病的可能,详细询问有关家族史及诱发因素,同时检查尿液PBG以明确诊断,以免发生误诊和漏诊。

Porphyrias is mainly caused by enzyme deficiency during heme synthesis,and its manifestation was increasing of porphyrin and porphyrin precursor,such as ALA and PBG,which metabolized via urine and feces. Porphyrias is rare on clinic,and its clinical symptoms is various,is easily to be misdiagnosed. When we meet cases performed as recurrent abdominal pain with peripheral nerve damage,severe symptoms without severe physical signs on clinic,and can not be explained by common diseases,porphyrias was with great probability. Clinicians should ask family history and precipitating factor in detail,and examine the urine PBG to clarify the diagnosis,to avoid diagnostic errors and misdiagnosis.