Avances en hemocromatosis hereditaria / Advances in hereditary hemochromatosis
Acta gastroenterol. latinoam
;
33(2): 103-107, 2003. ilus, tab
Article
in Spanish
| LILACS
| ID: lil-420389
RESUMO
Hereditary hemocromatosis (HH) is a genetic disease with a recessive autosomic pattern, in which inadequate iron (Fe) absorption is made by the intestinal cell. As consequence of that process, takes place a progressive accumulation of metal in different organs, predominantly in the liver. This leads to an alteration of liver structure and function cirrhosis and hepatocarcinoma (1). The gene implied in this pathology was identified (HFE) in 1996. This codes a similar molecule to the mayor histocompatibility complex type 1(MHC-T1 like) that can modulate the transport of PE binding the transferrin receptor. This progress allows a deep understanding of the molecular and cellular biology of the homeostasis of the Fe and its alterations in the NH. The diagnosis of disease by means of a genetic test let to carry out a familiar screening and to detect asymptomatic carriers. This makes possible to begin the appropriate treatment at early stages of the disease in order to avoid its consequences and offering a better quality of life to these patients.
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Index:
LILACS (Americas)
Main subject:
Hemochromatosis
Type of study:
Diagnostic study
/
Prognostic study
Limits:
Humans
Language:
Spanish
Journal:
Acta gastroenterol. latinoam
Journal subject:
Gastroenterology
Year:
2003
Type:
Article
Affiliation country:
Argentina
Institution/Affiliation country:
Hospital Pirovano/AR
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