Molecular diagnostics of převaleni hereditary gastrointestinal diseases:
I. Liver diseases
PETRÁŠEK I.1*2, JIRSA M.1, TRUNEČKA P.2
1Laboratoř experimentální hepatologie CEM, IKEM, Vedoucí: MUDr. Mgr. Milan Jirsa, CSc. 2Klinika hepatogastroenterologie, IKEM, Přednosta: doc. MUDr. Julius Špičák, CSc. |
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Summary:
The purpose of this review is to discuss recent findings related to hereditary metabolic disorders of the liver
that increase our understanding of the pathophysiology and treatment of hemochromatosis, Wilson's disea-
se, alpha-1 antitrypsin deficiency and cystic fibrosis. We present a clinical approach to disease recognition,
investigation and treatment.
Key words:
Hereditary hemochromatosis, Wilson's disease, Alpha-1 antitrypsin deficiency, cystic fibrosis
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