کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
9241737 | 1209243 | 2005 | 14 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Hemochromatosis: Genetic Testing and Clinical Practice
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کلمات کلیدی
DMT1OMIMTfR2MRI - امآرآی یا تصویرسازی تشدید مغناطیسیMagnetic resonance imaging - تصویربرداری رزونانس مغناطیسیcomputed tomography - توموگرافی کامپیوتری یا سی تی اسکن یا مقطعنگاری رایانهایDivalent metal transporter 1 - متال فلچر 1Online Mendelian Inheritance in Man - وراث آنلاین مندلیان در انسانTransferrin receptor 2 - گیرنده انتقالن 2
موضوعات مرتبط
علوم پزشکی و سلامت
پزشکی و دندانپزشکی
بیماریهای گوارشی
پیش نمایش صفحه اول مقاله
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چکیده انگلیسی
The availability of a facile treatment for hemochromatosis renders early diagnosis of iron overload syndromes mandatory, and in many instances genetic testing allows identification of individuals at risk of developing clinical disease before pathologic iron storage occurs. Numerous proteins implicated in iron homeostasis have recently come to light, and defects in the cognate genes are associated with iron storage. Although most adult patients with hereditary iron overload are homozygous for the C282Y mutation of the HFE gene, an increasing number with hereditary iron storage have an HFE genotype not characteristic of the disease. Heterozygosity for mutations in the gene encoding ferroportin 1 (FPN1) is probably the second most common genetic cause of hereditary iron storage in adults; here the primarily affected cell is the macrophage. Rare defects, including mutations in the transferrin receptor 2 (TFR2) gene, have also been identified in pedigrees affected with “non-HFE hemochromatosis.” Homozygous mutations in the newly identified genes encoding hemojuvelin (HFE2) and hepcidin (HAMP) cause juvenile hemochromatosis. At the same time, heterozygosity for mutations in these genes can modify the clinical expression of iron storage in patients predisposed to iron storage in adult life. Hemochromatosis might thus be considered as a polygenic disease with strong environmental influences on its clinical expression. As our mechanistic understanding of iron pathophysiology improves, our desire to integrate clinical decision making with the results of laboratory tests and molecular analysis of human genes poses increasing challenges.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Clinical Gastroenterology and Hepatology - Volume 3, Issue 10, October 2005, Pages 945-958
Journal: Clinical Gastroenterology and Hepatology - Volume 3, Issue 10, October 2005, Pages 945-958
نویسندگان
Heinz Zoller, Timothy M. Cox,