Diagnosis and treatment in hereditary hemochromatosis

被引：1

作者：

von Figura, G. ^{[1
]}

Kulaksiz, H. ^{[1
]}

机构：

[1] Univ Ulm Klinikum, Innere Med Klin 1, Innere Med Abt 1, D-89081 Ulm, Germany

来源：

DEUTSCHE MEDIZINISCHE WOCHENSCHRIFT | 2009年 / 134卷 / 50期

关键词：

hemochromatosis; cirrhosis; iron; genetic testing; HFE; HEPATIC IRON INDEX; JUVENILE HEMOCHROMATOSIS; OVERLOAD; MUTATIONS; HEPCIDIN; GENE; SURVIVAL; DISEASE; LIVER;

D O I：

10.1055/s-0029-1243062

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Hereditary hemochromatosis is one of the commonest inherited diseases. The underlying genetic defects lead to an accumulation of iron and subsequent damaging in various organs, especially in the liver. About 14 years ago a genetic test was introduced in Germany that detects hereditary forms of hemochromatosis with a high sensitivity and specificity. This test allows to diagnose hemochromatosis even before end-organ damage is present. The aim is to identify hemochromatosis patients at early disease stages to start a therapy, since an early diagnosis and treatment results in a normal life expectancy. In this article the clinical features, diagnostic approaches and therapy of hereditary hemochromatosis are summarized. © Georg ThiemeVerlag KG Stuttgart.

引用

页码：2565 / 2572

页数：8

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