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散发性迟发性皮肤卟啉症作为遗传性血色素沉着症的初始表现

Sporadic Porphyria Cutanea Tarda as the Initial Manifestation of Hereditary Hemochromatosis.

作者信息

Edwards Mitchell V, Ray Jennifer Michelle, Bacon Bruce R

机构信息

Saint Louis University School of Medicine, St Louis, MO.

Department of Gastroenterology and Hepatology, Saint Louis University Hospital, St Louis, MO.

出版信息

ACG Case Rep J. 2019 Nov 26;6(11):e00247. doi: 10.14309/crj.0000000000000247. eCollection 2019 Nov.

Abstract

Porphyria cutanea tarda (PCT) is a skin disorder characterized by abnormal heme synthesis. We present a 45-year-old man with intermittent skin lesions recurring annually for years. Skin biopsy and measurement of serum heme precursors confirmed a diagnosis of PCT. He had persistently elevated alanine and aspartate transferase. He was referred to hematology and had genetic testing with iron studies which also revealed hereditary hemochromatosis (HH). Therapeutic phlebotomy was initiated, which led to resolution of iron overload and skin lesions. We highlight the associated conditions of PCT and HH, their common therapy of phlebotomy, and initial manifestations of HH.

摘要

迟发性皮肤卟啉病(PCT)是一种以血红素合成异常为特征的皮肤疾病。我们报告一名45岁男性,多年来每年间歇性出现皮肤病变。皮肤活检和血清血红素前体测量确诊为PCT。他的丙氨酸和天冬氨酸转氨酶持续升高。他被转诊至血液科,进行了基因检测和铁代谢研究,结果还显示患有遗传性血色素沉着症(HH)。开始进行治疗性放血,这使铁过载和皮肤病变得到缓解。我们强调了PCT和HH的相关情况、它们共同的放血疗法以及HH的初始表现。

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