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Hemochromatosis and porphyria.

机译：血色素沉着症和卟啉症。

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A 52-year-old man presented to his primary care physician with blisters and sores on the backs of his hands. Laboratory studies supported a diagnosis of porphyria cutanea tarda, complicated by the presence of both the C282Y and H63D mutations in the HFE gene, with susequent iron over-load. This case illustrates the need to understand the pathogenesis of porphyria cutanea tarda, particularly the role of excess iron in the overproduction of uroporphyrin. Iron, by catalyzing the formation of reactive oxygen species, can enhance uroporphyrin formation by increasing the rate at which uroporphyrinogen is oxidized to urophophyrin. Iron may also act indirectly to inhibit uroporphyrinogen decarboxylase activity by enhancing the formation of non-porphyrin products of porphyrinogen oxidation that are themselves direct inhibitors of the enzyme. Finally, iron can act to increase urophorphyrin production by inducing delta-aminolevulinic acid synthase, thus increasing the amount of delta-aminolevulinic acid, the precursor to uroporphyrinogen, present in the cell. After the diagnosis, the patient underwent an aggressive series of therapeutic phlebotomies to reduce iron levels, and gradually the cutaneous manifestations of porphyria cutanea tarda improved.
机译：一名52岁的男子出现在其初级保健医生的手上，身上出现水泡和疮。实验室研究支持诊断为迟发性卟啉症，并伴有HFE基因中的C282Y和H63D突变，并伴有铁超负荷。该案例说明需要了解皮肤卟啉卟啉菌的发病机理，尤其是过量铁在尿卟啉过量生产中的作用。铁通过催化活性氧的形成，可以通过增加尿卟啉原被氧化成尿卟啉的速率来提高尿卟啉的形成。铁还可以通过增强卟啉原氧化本身的直接抑制剂的非卟啉产物的形成来间接抑制尿卟啉原脱羧酶活性。最后，铁可通过诱导δ-氨基乙酰丙酸合酶，从而增加尿卟啉的产生，从而增加细胞中存在的尿卟啉原的前体δ-氨基乙酰丙酸的量。诊断后，患者进行了一系列积极的治疗性静脉切开术以降低铁水平，并逐渐改善了皮肤卟啉卟啉单胞菌的皮肤表现。

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