Less Usual Cause of Fatigue Conditions in an Adolescent Girl - Hereditary Hemochromatosis
Authors:
J. Bělorová; P. Kabíček; J. Hamanová 1
Authors‘ workplace:
Klinika dětského a dorostového lékařství 1. LF UK a VFN, Prahapřednosta doc. MUDr. J. Hoza, CSc. Subkatedra dorostového lékařství IPVZ, Praha1 ředitel MUDr. A. Malina, PhD.
Published in:
Čes-slov Pediat 2003; (11): 691-694.
Category:
Overview
The case report of an adolescent girl, who was examined for fatigue conditions and sleep disorders is presented.There was a repeated detection of high level of plasma iron and a high saturation of transferrin: liver biopsyrevealed storage of iron in the liver and a high saturation of transferrin, while a subsequent genetic examinationdetermined mutation of the HFE gene, causing hereditary hemochromatosis. When the diagnosis was establishedthe therapy by repeated venepuncturewas initiated in order to decrease superfluous storage of iron in the organism.The patient is affected at an early age by the disease, which usually becomes manifest at the adult age. In view ofthe early beginning of the treatment the prognosis of the disease appears to be favourable.
Key words:
juvenile hemochromatosis, hereditary hemochromatosis type 1, mutation of HFE gene
Labels
Neonatology Paediatrics General practitioner for children and adolescentsArticle was published in
Czech-Slovak Pediatrics
2003 Issue 11
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