Molecular diagnostics of prevalent hereditary gastrointestinal diseases: I. Liver diseases
Molekulární diagnostika nejčastějších dědičných chorob trávicí soustavy: I. Choroby jater
Molekulárně genetická vyšetření potvrzují, či umožňují stanovit diagnózu dědičných chorob. V následujícím textuje uveden přehled současných molekulárně genetických poznatků o nejčastějších dědičných chorobách jater a jejich významu pro patogenezi, screening, diagnostiku a léčbu hereditární hemochromatózy, Wilsonovy choroby, deficitu alfa-1 antitrypsinu a cystické fibrózy.
Klíčová slova:
Hereditární hemochromatóza, Wilsonova choroba, deficit alfa-1 antitrypsinu, cystická fibróza
Authors:
J. Petrášek 1,2; M. Jirsa 1; P. Trunečka 2
Authors‘ workplace:
Laboratoř experimentální hepatologie CEM, IKEM
Vedoucí: MUDr. Mgr. Milan Jirsa, CSc.
1; Klinika hepatogastroenterologie, IKEM
Přednosta: doc. MUDr. Julius Špičák, CSc.
2
Published in:
Prakt. Lék. 2006; 86(10): 588-590
Category:
Diagnostis
Overview
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 disease, alpha-1 antitrypsin deficiency and cystic fibrosis. We present a clinical approach to disease recognition, investigation and treatment.
Keywords:
Hereditary hemochromatosis, Wilson’s disease, Alpha-1 antitrypsin deficiency, cystic fibrosis
Labels
General practitioner for children and adolescents General practitioner for adultsArticle was published in
General Practitioner
2006 Issue 10
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