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 immunohistochemistry 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 and 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.
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 immunohistochemistry and real-time PCR in duodenal biopsies of this patient. RESULTS: Whereas in hereditary hemochromatosispatients without CD, DMT1 expression was up-regulated leading to excessive uptake of iron, we identified a significant reduction in protein and 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.
Authors: U Volta; S Bellentani; F B Bianchi; G Brandi; L De Franceschi; L Miglioli; A Granito; F Balli; C Tiribelli Journal: Dig Dis Sci Date: 2001-07 Impact factor: 3.199
Authors: Andreas Rolfs; Herbert L Bonkovsky; James G Kohlroser; Kristina McNeal; Ashish Sharma; Urs V Berger; Matthias A Hediger Journal: Am J Physiol Gastrointest Liver Physiol Date: 2002-04 Impact factor: 4.052
Authors: H Zoller; R O Koch; I Theurl; P Obrist; A Pietrangelo; G Montosi; D J Haile; W Vogel; G Weiss Journal: Gastroenterology Date: 2001-05 Impact factor: 22.682