Down-regulation of hepcidin in porphyria cutanea tarda

Ajioka, Richard S.; Phillips, John D.; Weiss, Robert B.; Dunn, Diane M.; Smit, Maria W.; Proll, Sean; Katze, Michael G.; Kushner, James P.

doi:10.1182/blood-2008-02-138222

Cited by 39 publications

(30 citation statements)

References 53 publications

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“…Liver biopsy frequently shows siderosis and transferrin saturation, and the serum iron and ferritin concentrations are commonly increased. Hepatic hepcidin (HAMP) expression was reduced in patients with PC independently of their HFE genotype, when compared to patients with hereditary hemochromatosis and a comparable iron overload but without PC [37]. However, in another study, serum hepcidin levels were increased in a series of thirty PC patients [38].…”

Section: Precipitating Factorsmentioning

confidence: 89%

See 1 more Smart Citation

Porphyrias: A 2015 update

Karim

Lyoumi²,

Nicolas

et al. 2015

Clinics and Research in Hepatology and Gastroenterology

139

144

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Section: Precipitating Factorsmentioning

confidence: 89%

“…5C). C282Y homozygosity, conferring the highest risk, is present in 20% of PC [36,37]. Liver biopsy frequently shows siderosis and transferrin saturation, and the serum iron and ferritin concentrations are commonly increased.…”

Section: Precipitating Factorsmentioning

confidence: 96%

Porphyrias: A 2015 update

Karim

Lyoumi²,

Nicolas

et al. 2015

Clinics and Research in Hepatology and Gastroenterology

139

144

View full text Add to dashboard Cite

“…This heterozygous mutation was also found in one patient in a series of 96 PCT patients reported by Ajioka et al, (14) resulting in an alíele frequency of 0.5%. However, ferritin levels were normal at the time of diagnosis in these two patients.…”

Section: Discussionmentioning

confidence: 69%

Hemojuvelin and Hepcidin Gene Mutations in Patients with Porphyria Cutanea Tarda from Southern France

Du‐Thanh¹,

Aguilar-Martinez²,

Cunat³

et al. 2011

Acta Derm Venerol

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“…Phlebotomy protocols similar to those applied to hemochromatosis control the skin and liver complications. Mutations of HFE are found with increased prevalence in patients with PCT and hepcidin levels have been found to be decreased [34].…”

Section: Acquired Iron Overloadmentioning

confidence: 99%

Recent advances in iron metabolism and related disorders

Camaschella

2010

Intern Emerg Med

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Iron is essential for life, because it is indispensable for several biological reactions such as oxygen transport, DNA synthesis and cell proliferation, but is toxic if present in excess since it causes cellular damage through free radical formation. Either cellular or systemic iron regulation can be disrupted in disorders of iron metabolism. In the past few years, our understanding of iron metabolism and its regulation has dramatically changed. New disorders of iron metabolism have emerged and the role of iron has started to be recognized as a cofactor of other disorders. The study of genetic conditions such as hemochromatosis and iron-refractory-iron-deficiency anemia (IRIDA) has provided crucial insights into the molecular mechanisms controlling iron homeostasis. In the future, these advances may be exploited for a more effective treatment of both genetic and acquired iron disorders.

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Down-regulation of hepcidin in porphyria cutanea tarda

Cited by 39 publications

References 53 publications

Porphyrias: A 2015 update

Porphyrias: A 2015 update

Hemojuvelin and Hepcidin Gene Mutations in Patients with Porphyria Cutanea Tarda from Southern France

Recent advances in iron metabolism and related disorders

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