Fetal and infantile hemochromatosis†

Whitington, Peter F.

doi:10.1002/hep.21129

Cited by 95 publications

(104 citation statements)

References 39 publications

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“…12,15,19,20 In a recent cohort of 33 fetuses with NH, thyroid siderosis was more frequent than pancreatic. 14 Less frequently affected are the gastric glands, Brunner glands, parathyroid glands, thymus (Hassall corpuscles), renal tubules, pancreatic islets, adenohypophysis, and chondrocytes in hyaline cartilage.…”

Section: Extrahepatic Manifestations Of Gestational Alloimmune Liver mentioning

confidence: 99%

Neonatal Hemochromatosis

Feldman

Whitington

2013

Journal of Clinical and Experimental Hepatology

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108

116

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Section: Extrahepatic Manifestations Of Gestational Alloimmune Liver mentioning

confidence: 99%

Neonatal Hemochromatosis

Feldman

Whitington

2013

Journal of Clinical and Experimental Hepatology

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108

116

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“…The unexplained hepatic iron overload associated with acute liver failure and chronic end-stage liver disease, which closely resembles that of hemochromatosis, 15 may be a manifestation of diminished hepcidin output due to a markedly reduced functional hepatic mass. Finally, the rapidly fatal ironloading disease known as neonatal hemochromatosis is now felt to be caused by the immune-mediated destruction of another major hepatic iron protein, 16 which is currently unidentified. It might be linked to hepcidin.…”

Section: Disruption Of Homeostasis: Insulin and Diabetes Hepcidin Anmentioning

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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“…24 Neonatal hemochromatosis may present in late second or third trimester as fetal loss or in the hours to weeks after birth as acute liver failure and often multiorgan failure. Histologically, iron deposition within hepatocytes rather than Kupffer cells is typical, with iron deposition to a lesser degree occurring in non-hepatic organs as well.…”

Section: Neonatal Hemochromatosismentioning

confidence: 99%

“…In addition to the iron deposition, hepatic injury in the form of occasionally marked lobular necrosis and regeneration occurs typically and cirrhosis is common. 24 …”

Section: Neonatal Hemochromatosismentioning

confidence: 99%