Division of Human Nutrition, Department of Preventive Medicine and Community Health, University of Texas Medical Branch, Galveston, Texas, USA.
Clin Gastroenterol Hepatol. 2010 Mar;8(3):297-302, 302.e1. doi: 10.1016/j.cgh.2009.11.017. Epub 2009 Nov 27.
BACKGROUND & AIMS: Porphyria cutanea tarda (PCT) is the most common of the human porphyrias and results from an acquired deficiency of hepatic uroporphyrinogen decarboxylase (UROD). Some susceptibility factors have been identified; we examined associations among multiple factors in a large cohort of patients.
Multiple known or suspected susceptibility factors and demographic and clinical features of 143 patients (mean age 52 years, 66% male, 88% Caucasian) with documented PCT (mean onset at 41 +/- 8.8 years) were tabulated; associations were examined by contingency tables, classification and regression tree (CART) analysis, and logistic regression.
The most common susceptibility factors for PCT were ethanol use (87%), smoking (81%), chronic hepatitis C virus (HCV) infection (69%), and HFE mutations (53%; 6% C282Y/C282Y and 8% C282Y/H63D). Of those who underwent hepatic biopsy or ultrasound, 56% had evidence of hepatic steatosis. Of those with PCT, 66% of females took estrogen, 8% were diabetic, 13% had human immunodeficiency virus (HIV) infection, and 17% had inherited uroporphyrinogen decarboxylase (UROD) deficiency (determined by low erythrocyte UROD activity). Three or more susceptibility factors were identified in 70% of patients. HCV infection in patients with PCT was significantly associated with other behavior-related factors such as ethanol use (odds ratio [OR], 6.3) and smoking (OR, 11.9).
Susceptibility factors for PCT were similar to previous studies; most patients had 3 or more susceptibility factors. Associations between PCT and HCV, ethanol or smoking could be accounted for by a history of multiple substance abuse; other factors are distributed more randomly among patients.
迟发性皮肤卟啉病（PCT）是人类卟啉病中最常见的一种，由肝尿卟啉原脱羧酶（UROD）获得性缺乏引起。已经确定了一些易感性因素；我们在一个大型患者队列中检查了多种因素之间的关联。
对 143 名确诊为 PCT（平均发病年龄为 52 岁，66%为男性，88%为白种人）患者的多个已知或疑似易感性因素以及人口统计学和临床特征（平均发病年龄为 41 岁±8.8 岁）进行了列表记录；通过列联表、分类回归树（CART）分析和逻辑回归检查关联。
PCT 最常见的易感性因素是乙醇使用（87%）、吸烟（81%）、慢性丙型肝炎病毒（HCV）感染（69%）和 HFE 突变（53%；6% C282Y/C282Y 和 8% C282Y/H63D）。在接受肝活检或超声检查的患者中，56%有肝脂肪变性的证据。在患有 PCT 的患者中，66%的女性服用雌激素，8%患有糖尿病，13%感染人类免疫缺陷病毒（HIV），17%患有遗传性尿卟啉原脱羧酶（UROD）缺乏症（通过红细胞 UROD 活性低确定）。70%的患者有 3 种或更多的易感性因素。PCT 患者的 HCV 感染与其他与行为相关的因素如乙醇使用（比值比 [OR]，6.3）和吸烟（OR，11.9）显著相关。
PCT 的易感性因素与之前的研究相似；大多数患者有 3 种或更多的易感性因素。PCT 与 HCV、乙醇或吸烟之间的关联可以通过多种物质滥用的病史来解释；其他因素在患者中分布更为随机。
