Beaumont C, Fauchet R, Phung L N, De Verneuil H, Gueguen M, Nordmann Y
Gastroenterology. 1987 Jun;92(6):1833-8. doi: 10.1016/0016-5085(87)90612-3.
This study was designed to test the hypothesis that a hemochromatosis allele is implicated in the expression of porphyria cutanea tarda. HLA phenotypes were determined in 69 porphyria cutanea tarda patients, 42 of which had the sporadic type (normal erythrocyte uroporphyrinogen decarboxylase activity) and 27 unrelated patients who had the familial type (diminished erythrocyte uroporphyrinogen decarboxylase activity). The incidence of HLA antigen A3, a marker of the hemochromatosis allele, was identical in the sporadic patients (23.8%), in the familial patients (22.2%), and in the controls (24.5%). Furthermore, no clinical difference could be found between A3 and non-A3 patients. These results demonstrate no systematic association between hemochromatosis and porphyria cutanea tarda in the population studied. Another HLA-linked gene, however, could be implicated in the expression of the disease as HLA antigen DR7 presented an incidence statistically different (p less than 0.05) between sporadic (16.6%) and familial patients (43%).
本研究旨在验证血色素沉着病等位基因与迟发性皮肤卟啉症的表达有关这一假说。对69例迟发性皮肤卟啉症患者进行了HLA表型测定，其中42例为散发性类型（红细胞尿卟啉原脱羧酶活性正常），27例为家族性类型（红细胞尿卟啉原脱羧酶活性降低）的无关患者。血色素沉着病等位基因的标志物HLA抗原A3在散发性患者（23.8%）、家族性患者（22.2%）和对照组（24.5%）中的发生率相同。此外，A3和非A3患者之间未发现临床差异。这些结果表明，在所研究的人群中，血色素沉着病与迟发性皮肤卟啉症之间没有系统性关联。然而，另一个与HLA相关的基因可能与该病的表达有关，因为HLA抗原DR7在散发性患者（16.6%）和家族性患者（43%）之间的发生率存在统计学差异（p小于0.05）。
