Occult celiac disease prevents penetrance of hemochromatosis

作     者：Andreas Geier Carsten Gartung Igor Theurl Guenter Weiss Frank Lammert Christoph G.Dietrich Ralf Weiskirchen Heinz Zoller Benita Hermanns Siegfried Matern 

作者机构：Department of Internal Medicine Ⅲ Aachen University (RWTH)AachenGermany Department of Internal Medicine University of InnsbruckInnsbruckAustria Department of Clinical Chemistry and Pathobiochemistry Aachen University(RWTH)AachenGermany Department of Pathology Aachen University (RWTH)AachenGermany Department of Internal Medicine Ⅲ Aachen University(RWTH)Aachen Germany 

出 版 物：《World Journal of Gastroenterology》 (世界胃肠病学杂志（英文版）)

年 卷 期：2005年第11卷第21期

页      面：3323-3326页

核心收录：

学科分类：1002[医学-临床医学] 100201[医学-内科学(含：心血管病、血液病、呼吸系病、消化系病、内分泌与代谢病、肾病、风湿病、传染病)] 10[医学] 

主　　题：Hemochromatosis Celiac disease Divalentmetal transporter 1 Transferrin receptor Iron metabolism 

摘      要：AIM:To report a patient with C282Y homozygocity,depleted body iron and intestinal atrophy caused by celiac disease (CD) who experienced resolution of the enteropathy with subsequent normalization of iron metabolism upon gluten free diet. METHODS:To obtain information on the tissue distribution and quantitative expression of proteins involved in duodenal iron trafficking,we determined the expression of divalent-metal transporter 1 (DMT1),ferroportin 1 (FP1) and transferrin receptor (TfR1) by means of immunohist-ochemistry and real-time PCR in duodenal biopsies of this patient. RESULTS:Whereas in hereditary hemochromatosis patients without CD, DMT1 expression was up-regulated leading to excessive uptake of iron, we identified a significant reduction in protein ana mRNA expression of DMT1 as a compensatory mechanism in this patient with HH and CD. CONCLUSION:Occult CD may compensate for increased DMT1 expression in a specific subset of individuals with homozygous C282Y mutations in the hemochromatosis (HFE) gene,thus contributing to the low penetrance of HH.