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由HMBS基因新突变引起的急性间歇性卟啉病，误诊为胆囊炎。

Acute intermittent porphyria caused by novel mutation in HMBS gene, misdiagnosed as cholecystitis.

作者信息

Alfadhel Majid, Saleh Neam, Alenazi Helal, Baffoe-Bonnie Henry

机构信息

Division of Genetics, Department of Pediatrics, King Abdulaziz Medical City, Riyadh, Kingdom of Saudi Arabia ; College of Medicine, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Kingdom of Saudi Arabia.

Division of General Medicine, Department of Medicine, King Abdulaziz Medical City, Riyadh, Kingdom of Saudi Arabia.

出版信息

Neuropsychiatr Dis Treat. 2014 Nov 12;10:2135-7. doi: 10.2147/NDT.S73070. eCollection 2014.

DOI:10.2147/NDT.S73070
PMID:25419136
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4235503/
Abstract

BACKGROUND

Acute intermittent porphyria (AIP) is an autosomal dominant neurovisceral inherited disorder due to a defect in the heme biosynthesis pathway. Misdiagnosis of the porphyrias is not uncommon.

CASE REPORT

We present a case of a 26-year-old female with suspected acute cholecystitis, mental status changes, and seizures. Biochemical and molecular investigations confirmed the diagnosis of AIP by findings of elevated urinary porphobilinogen, 5-aminolevulinic acid, and total porphyrins. DNA molecular testing showed a novel heterozygous mutation (c. 760delC p.L254X) in the exon11 of the HMBS gene. To the best of our knowledge, this is the first report of a misdiagnosis of AIP presenting with acute cholecystitis.

CONCLUSION

Clinicians are alerted to consider the possibility of AIP in an adult presenting with an acute abdomen, features of cholecystitis, and neuropsychiatric manifestations.

摘要

背景

急性间歇性卟啉病（AIP）是一种常染色体显性神经内脏遗传性疾病，由血红素生物合成途径缺陷引起。卟啉病的误诊并不罕见。

病例报告

我们报告一例26岁女性，怀疑患有急性胆囊炎、精神状态改变和癫痫发作。生化和分子检查通过尿卟胆原、5-氨基乙酰丙酸和总卟啉升高的结果确诊为AIP。DNA分子检测显示HMBS基因第11外显子有一个新的杂合突变（c. 760delC p.L254X）。据我们所知，这是首例以急性胆囊炎表现误诊为AIP的报告。

结论

临床医生应警惕成年患者出现急腹症、胆囊炎特征和神经精神表现时AIP的可能性。

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