Fargion S, Fracanzani A L, Romano R, Cappellini M D, Faré M, Mattioli M, Piperno A, Ronchi G, Fiorelli G
Institute of Internal Medicine and Medical Physiopathology, Institute G. Pini, Milan.
J Hepatol. 1996 May;24(5):564-9. doi: 10.1016/s0168-8278(96)80141-3.
BACKGROUND/AIMS: Mild to moderate iron overload is found in most patients with porphyria cutanea tarda. This study aimed to evaluate whether iron overload in patients with porphyria cutanea tarda is related to the presence of a coexistent genetic hemochromatosis gene.
A cohort study of 94 Italian patients with porphyria cutanea tarda (90 men and 4 women) and 20 relatives of five patients with iron overload were studied. Diagnosis of iron overload was assessed by transferrin saturation, serum ferritin and iron removed by phlebotomy to reach depletion. HLA typing by microlymphocytotoxicity test and duodenal ferritin analysis by immunohistochemistry were performed in a smaller number of patients. The chi square test was used to compare means and prevalences.
Iron overload was present in 62% of the patients. HLA-A3 prevalence was significantly higher (p < 0.01) in subjects with iron overload than in those without. A lack of duodenal ferritin was observed in 14/18 patients with and in 6/12 without iron overload. Family studies showed the presence of iron overload but not of porphyria cutanea tarda in HLA identical or semi-identical relatives of the patients.
Italian patients with porphyria cutanea tarda and iron overload appear to have one or even two genes for genetic hemochromatosis.
背景/目的：大多数迟发性皮肤卟啉病患者存在轻至中度铁过载。本研究旨在评估迟发性皮肤卟啉病患者的铁过载是否与共存的遗传性血色素沉着症基因的存在有关。
对94例意大利迟发性皮肤卟啉病患者（90例男性和4例女性）以及5例铁过载患者的20名亲属进行了队列研究。通过转铁蛋白饱和度、血清铁蛋白以及通过放血去除铁直至耗尽来评估铁过载的诊断。对较少数量的患者进行了微淋巴细胞毒性试验的HLA分型以及免疫组织化学的十二指肠铁蛋白分析。采用卡方检验比较均值和患病率。
62%的患者存在铁过载。铁过载患者中HLA - A3的患病率显著高于无铁过载患者（p < 0.01）。在14/18例有铁过载和6/12例无铁过载患者中观察到十二指肠铁蛋白缺乏。家族研究显示患者的HLA相同或半相同亲属中存在铁过载，但不存在迟发性皮肤卟啉病。
患有迟发性皮肤卟啉病和铁过载的意大利患者似乎有一个甚至两个遗传性血色素沉着症基因。
