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成人起病的先天性红细胞生成性卟啉病（贡瑟氏病）伴血小板减少症。

Adult-onset congenital erythropoietic porphyria (Günther's disease) presenting with thrombocytopenia.

作者信息

Murphy A, Gibson G, Elder G H, Otridge B A, Murphy G M

机构信息

Regional Centre of Dermatology, Mater Hospital, Dublin, Eire.

出版信息

J R Soc Med. 1995 Jun;88(6):357P-358P.

PMID:7629774
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1295249/
Abstract

Cutaneous signs of Günther's disease (congenital erythropoietic porphyria) developing 5 years after the onset of symptomatic thrombocytopenia are described in a 65-year-old man. Persistent thrombocytopenia unresponsive to corticosteroids and immunoglobulin necessitated a splenectomy.

摘要

一名65岁男性患者出现症状性血小板减少症5年后，出现了冈瑟病（先天性红细胞生成性卟啉症）的皮肤表现。对皮质类固醇和免疫球蛋白无反应的持续性血小板减少症使脾切除术成为必要。

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本文引用的文献

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The anaemia of erythropoietic prophyria with the description of the disease in an elderly patient.
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Congenital erythropoietic porphyria. I. Case report, special studies and therapy.
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Late onset erythropoietic porphyria.
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Erythropoietic uroporphyria of Gunther first presenting at 58 years with positive family studies.58岁首次出现且家族研究呈阳性的冈瑟红细胞生成性血卟啉病。
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