An update on laboratory diagnosis of liver inherited diseases.

Content Provider	Europe PMC
Author	Zarrilli, Federica Elce, Ausilia Scorza, Manuela Giordano, Sonia Amato, Felice Castaldo, Giuseppe
Copyright Year	2013
Abstract	Liver inherited diseases are a group of genetically determined clinical entities that appear with an early chronic liver involvement. They include Wilson's disease (hepatolenticular degeneration), hereditary hemochromatosis, and alpha-1-antitrypsin deficiency. In addition, cystic fibrosis, although it is not specifically a liver disease, may cause a severe liver involvement in a significant percentage of cases. For all these pathologies, the disease gene is known, and molecular analysis may contribute to the unequivocal diagnosis. This approach could avoid the patient invasive procedures and limit complications associated with a delay in diagnosis. We review liver inherited diseases on the basis of the genetic defect, focusing on the contribution of molecular analysis in the multistep diagnostic workup.
ISSN	23146133
Journal	Biomed Research International
Volume Number	2013
PubMed Central reference number	PMC3816025
PubMed reference number	24222913
e-ISSN	23146141
DOI	10.1155/2013/697940
Language	English
Publisher	Hindawi
Publisher Date	2013-10-08
Access Restriction	Open
Rights License	This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Copyright © 2013 Federica Zarrilli et al.
Content Type	Text
Resource Type	Article
Subject	Immunology and Microbiology Medicine Biochemistry, Genetics and Molecular Biology