Abstract |
Hereditary hemochromatosis (HH) includes various disorders in iron metabolism producing iron deposits in several organs. HH is classified according to the HFE gene mutation. HH type I is characterized by HFE gene mutation, while types II, III and IV are due to other conditions. Juvenile hemochromatosis (JH) is related to hemojuvelin mutation, which is a regulatory peptide of the hepcidin protein, which regulates iron absorption. We report a case of JH and offer a concise review of the literature. A 14-year-old girl, with no secondary sexual characteristics, presented with abdominal pain, cough and dyspnoea. Clinical examination revealed right lower lobe consolidation, pleural effusion, cardiomegaly and an ejection fraction of 20%, with no response to treatment. On autopsy she was seen to have pleural and pericardial effusion, dilated cardiomyopathy, liver cirrhosis and pancreatic fibrosis. Prussian blue stain showed iron overload in these organs. JH with hypogonadism, cardiomyopathy and cirrhosis was diagnosed.
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Authors | Julio C Mantilla-Hernández, Julián Amaya-Mujica |
Journal | Revista espanola de patologia : publicacion oficial de la Sociedad Espanola de Anatomia Patologica y de la Sociedad Espanola de Citologia
(Rev Esp Patol)
2019 Jan - Mar
Vol. 52
Issue 1
Pg. 45-49
ISSN: 1988-561X [Electronic] Spain |
PMID | 30583831
(Publication Type: Case Reports, Journal Article, Review)
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Copyright | Copyright © 2018 Sociedad Española de Anatomía Patológica. Publicado por Elsevier España, S.L.U. All rights reserved. |
Chemical References |
- GPI-Linked Proteins
- HFE protein, human
- HJV protein, human
- Hemochromatosis Protein
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Topics |
- Adolescent
- Autopsy
- Cardiomyopathies
(pathology)
- Endomyocardial Fibrosis
(pathology)
- Fatal Outcome
- Female
- GPI-Linked Proteins
(genetics)
- Hemochromatosis
(congenital, genetics, pathology)
- Hemochromatosis Protein
(genetics)
- Humans
- Hypogonadism
(pathology)
- Liver
(pathology)
- Mutation
- Pancreas
(pathology)
- Pituitary Gland
(pathology)
- Submandibular Gland
(pathology)
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