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Acute Intermittent Porphyria Attack Triggered by COVID-19 Infection.新冠病毒感染引发的急性间歇性卟啉病发作
Cureus. 2023 Apr 10;15(4):e37412. doi: 10.7759/cureus.37412. eCollection 2023 Apr.
2
Porphyria Cutanea Tarda Due to Primary Hemochromatosis.原发性血色素沉着症所致迟发性皮肤卟啉病
Am J Med. 2020 Nov;133(11):e681-e682. doi: 10.1016/j.amjmed.2020.03.053. Epub 2020 May 13.
3
Haemochromatosis.血色病。
Nat Rev Dis Primers. 2018 Apr 5;4:18016. doi: 10.1038/nrdp.2018.16.
4
Primary hemochromatosis presented by porphyria cutanea tarda: a case report.迟发性皮肤卟啉症表现的原发性血色素沉着症:一例报告
Cases J. 2009 Jun 17;2:7246. doi: 10.4076/1757-1626-2-7246.
5
An unhappy triad: hemochromatosis, porphyria cutanea tarda and hepatocellular carcinoma-a case report.一个不幸的三联征:血色素沉着症、迟发性皮肤卟啉症和肝细胞癌——一例报告
World J Gastroenterol. 2007 Apr 7;13(13):1998-2001. doi: 10.3748/wjg.v13.i13.1998.
6
Hemochromatosis gene sequence deviations in German patients with porphyria cutanea tarda.德国迟发性皮肤卟啉病患者的血色素沉着症基因序列偏差
Physiol Res. 2006;55 Suppl 2:S75-83. doi: 10.33549/physiolres.930000.55.S2.75.
7
Hemochromatosis genes and other factors contributing to the pathogenesis of porphyria cutanea tarda.血色素沉着症基因及其他导致迟发性皮肤卟啉病发病机制的因素。
Blood. 2000 Mar 1;95(5):1565-71.
8
The genetic bases of the porphyrias.卟啉症的遗传基础。
Skin Pharmacol Appl Skin Physiol. 1998 Nov-Dec;11(6):297-309. doi: 10.1159/000029853.
9
Iron overload in porphyria cutanea tarda.迟发性皮肤卟啉症中的铁过载
Haematologica. 1999 Mar;84(3):248-53.
10
The biochemistry of heme synthesis in porphyria and in the porphyrinurias.卟啉症和卟啉尿症中血红素合成的生物化学。
Clin Dermatol. 1998 Mar-Apr;16(2):203-23. doi: 10.1016/s0738-081x(97)00201-0.

迟发性皮肤卟啉病:血色病的一种未被充分认识的表现形式。

Porphyria cutanea tarda: an under-recognised manifestation of haemochromatosis.

机构信息

Respiratory Medicine, University Hospitals Birmingham, Birmingham, UK

Cardiology Department, Fairfield General Hospital, Northern Care Alliance NHS Foundation Trust, Manchester, UK.

出版信息

BMJ Case Rep. 2023 Sep 7;16(9):e253203. doi: 10.1136/bcr-2022-253203.

DOI:10.1136/bcr-2022-253203
PMID:37678939
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10496723/
Abstract

We present a case of a woman who presented with a photosensitive skin rash and blisters on her extremities which did not improve with steroids. These were associated with polyarthralgia and a deranged liver function test on her admission. Further workup revealed that the patient has an undiagnosed porphyria cutanea tarda (PCT) and hereditary haemochromatosis. The patient later underwent regular venesections which improved her condition. This case report not only illustrates the challenge in diagnosing PCT but also aims to highlight the association between PCT and hereditary haemochromatosis.

摘要

我们报告了一例女性病例,其表现为光敏性皮疹和四肢水疱,类固醇治疗无效。这些症状伴有多关节炎和入院时肝功能检查异常。进一步检查显示患者患有未确诊的迟发性皮肤卟啉病(PCT)和遗传性血色素沉着症。患者后来接受了定期放血治疗,病情有所改善。本病例报告不仅说明了诊断 PCT 的挑战,还旨在强调 PCT 与遗传性血色素沉着症之间的关联。