Magnetic resonance imaging to identify classic and nonclassic forms of ferroportin disease

Pietrangelo, Antonello; Corradini, Elena; Ferrara, Francesca; Vegetti, Alberto; Jong, Gerard de; Abbati, Gian Luca; Arcuri, Pier Paolo; Martinelli, Sara; Cerofolini, E

doi:10.1016/j.bcmd.2006.08.007

Cited by 53 publications

(29 citation statements)

References 24 publications

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“…Then it provides guidance for the aetiological diagnosis process, especially with respect to the first choice of genotyping tests. This was recently well illustrated by Pietrangelo et al [31] in patients with ferroportin mutations. Moreover, in these patients, MRI contributed to establish phenotypic/genotypic correlations, and to understand the pathophysiology of the disease by demonstrating, beside the classical mixed pattern of iron accumulation, a nonclassical parenchymal pattern related to the N144H ferroportin mutation [31] .…”

Section: Place Of Liver Biopsy In the Management Of Iron Overload Dissupporting

confidence: 54%

The Pathology of Hepatic Iron Overload

Deugnier¹,

Turlin²

2011

Iron Physiology and Pathophysiology in Humans

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Section: Place Of Liver Biopsy In the Management Of Iron Overload Dissupporting

confidence: 54%

The Pathology of Hepatic Iron Overload

Deugnier¹,

Turlin²

2011

Iron Physiology and Pathophysiology in Humans

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“…This hypothesis is supported by the fact that combined pathogenic mutations of HFE and TfR2 are associated with a more severe ironoverload phenotype than those caused by the mutation of HFE or TfR2 alone. 9 roportin disease and differentiating this disorder from hemochromatosis 26 (Fig. 5).…”

Section: Defining and Classifying Hemochromatosismentioning

confidence: 99%

Hemochromatosis

2007

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This review acknowledges the recent and dramatic advancement in the field of hemochromatosis and highlights the surprising analogies with a prototypic endocrine disease, diabetes. The term hemochromatosis should refer to a unique clinicopathologic subset of ironoverload syndromes that currently includes the disorder related to the C282Y homozygote mutation of the hemochromatosis protein HFE (by far the most common form of hemochromatosis) and the rare disorders more recently attributed to the loss of transferrin receptor 2, HAMP (hepcidin antimicrobial peptide), or hemojuvelin or to certain ferroportin mutations. The defining characteristic of this subset is failure to prevent unneeded iron from entering the circulatory pool as a result of genetic changes compromising the synthesis or activity of hepcidin, the iron hormone. Like diabetes, hemochromatosis results from the complex, nonlinear interaction between genetic and acquired factors. Depending on the underlying mutation, the coinheritance of modifier genes, the presence of nongenetic hepcidin inhibitors, and other host-related factors, the clinical manifestation may vary from simple biochemical abnormalities to severe multiorgan disease. The recognition of the endocrine nature of hemochromatosis suggests intriguing possibilities for new and more effective approaches to diagnosis and treatment. (HEPATOLOGY 2007;46:1291-1301

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“…This team has designed an MRI technique for any 0.5-, 1-, or 1.5-T MR system, and has developed a free-access, Internet-based calculation model [4]. This recommended protocol is now widely used in clinical practice, and many studies use the results obtained with it as the reference value for LIC [5][6][7][8]. It is considered reliable for LIC values under 350 μmol Fe/g; because of its simplicity and reproducibility, it is a useful option for standardising the quantification of LIC with MRI.…”

Section: Introductionmentioning

confidence: 99%