Molecular diagnostics of prevalent hereditary gastrointestinal diseases: I. Liver diseases

Czech version

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