Chapman B A, Horton D M, Burt M J, Romeril K R, Walmsley T A, Grant S J, George P
Department of Gastroenterology, Christchurch Hospital.
N Z Med J. 1994 Dec 14;107(991):504-7.
Genetic haemochromatosis is a common disorder resulting in increased iron deposition in the liver and other organs but can be difficult to diagnose. The aim of this study was to assess the diagnostic value of the conventional tests for iron overload (percentage saturation of transferrin, serum ferritin and grading of iron staining on liver biopsy) and compare these with the newer quantitative biochemical measurements of liver iron.
A retrospective analysis was made of 108 consecutive patients referred for quantitative liver iron measurements. Iron studies were obtained in 66 of the 108 subjects of whom 60 had abnormal screening tests defined as percent saturation of transferrin (> 60%) and/or ferritin > 350 micrograms/L for females and > 450 micrograms/L for males. Based on clinical features, biochemical data and treatment outcome these 60 subjects were classified as either genetic haemochromatosis, nongenetic haemochromatosis or indeterminate. One patient with treated genetic haemochromatosis was excluded from subsequent analysis.
Although the serum ferritin (p < 0.002), percentage saturation of transferrin (p < 0.001), histological iron grade (p < 0.0001) were significantly higher in the genetic haemochromatosis than nongenetic haemochromatosis group there was considerable overlap. Similarly for the hepatic iron concentration (HIC) (p < 0.0001) overlap occurred. The hepatic iron index (HIC/age) gave the best separation with only three cases being misclassified. A correlation between the HII and histological iron index (visualised iron score corrected for age) in 15 subjects gave an r value of 0.72.
Based on this study we feel that in addition to visual grading of iron in liver biopsies, the hepatic iron index is helpful in establishing a diagnosis of genetic haemochromatosis.
遗传性血色素沉着症是一种常见疾病，会导致肝脏和其他器官中铁沉积增加，但可能难以诊断。本研究的目的是评估铁过载常规检测（转铁蛋白饱和度百分比、血清铁蛋白和肝活检铁染色分级）的诊断价值，并将其与肝脏铁的新型定量生化测量结果进行比较。
对连续转诊进行肝脏铁定量测量的108例患者进行回顾性分析。108名受试者中的66人进行了铁代谢研究，其中60人筛查试验异常，定义为女性转铁蛋白饱和度百分比（>60%）和/或铁蛋白>350微克/升，男性>450微克/升。根据临床特征、生化数据和治疗结果，将这60名受试者分为遗传性血色素沉着症、非遗传性血色素沉着症或不确定类型。一名接受过治疗的遗传性血色素沉着症患者被排除在后续分析之外。
尽管遗传性血色素沉着症组的血清铁蛋白（p<0.002）、转铁蛋白饱和度百分比（p<0.001）、组织学铁分级（p<0.0001）显著高于非遗传性血色素沉着症组，但仍有相当大的重叠。同样，肝铁浓度（HIC）（p<0.0001）也存在重叠。肝铁指数（HIC/年龄）的区分效果最佳，只有3例被误分类。15名受试者的肝铁指数与组织学铁指数（校正年龄后的可视化铁评分）之间的相关性r值为0.72。
基于本研究，我们认为除了肝活检中铁的视觉分级外，肝铁指数有助于遗传性血色素沉着症的诊断。
