Hemochromatosis – a current review
Hemochromatóza – aktuálny prehľad
Prehľadný článok je venovaný aktuálnej definícii, diagnostike a liečbe hereditárnej hemochromatózy. Skríningové vyšetrenie zahrňa vyšetrenie saturácie transferínu a sérového feritínu. Indikované je u pacientov s nejasným hepatálnym ochorením, artropatiou, diabetom, respektive poruchou glukózovej tolerancie, neobjasnenou arytmiou alebo kardiomyopatiou. Definitívne potvrdenie poskytuje genetické vyšetrenie. Liečba venepunkciami je jednoduchá a najúčinnejšia. Včasná diagnóza a liečba umožní pacientovi plnohodnotný život, ktorého dľžka je porovnateľná s ostatnou populáciou.
Kľúčové slová:
hemochromatóza, feritín, saturácia transferínu, železo, diagnóza, liečba.
Authors:
M. Szántová
Authors‘ workplace:
Prednosta: prof. MUDr. Viliam Bada, CSc.
; III. Interná klinika LFUK, Bratislava
Published in:
Prakt. Lék. 2007; 87(10): 588-593
Category:
Reviews
Overview
The article reviews the current definition, diagnosis and treatment of hereditary hemochromatosis. The screening examination includes transferrin saturation and serum ferritin. It is indicated in patients with cryptogenic liver disease, arthropathy, diabetes mellitus or impairment of glucose tolerance, unclear arrhythmia or cardiomyopathy. Genetic examination offers final confirmation of the disease. Treatment with venepunction is simple and most effective. Early diagnosis and treatment allows the patient a normal life expectancy.
Key words:
hemochromatosis, ferritin, transferrin saturation, iron, diagnosis, treatment.
Labels
General practitioner for children and adolescents General practitioner for adultsArticle was published in
General Practitioner
2007 Issue 10
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