About this Journal Submit a Manuscript Table of Contents
BioMed Research International
Volume 2013 (2013), Article ID 697940, 7 pages
http://dx.doi.org/10.1155/2013/697940
Review Article

An Update on Laboratory Diagnosis of Liver Inherited Diseases

1Dipartimento di Bioscienze e Territorio, Università del Molise, Isernia, Italy
2CEINGE-Biotecnologie Avanzate Scarl, Via Gaetano Salvatore 486, 80145 Naples, Italy
3Università Telematica Pegaso, Naples, Italy
4Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università di Napoli Federico II, Naples, Italy

Received 2 July 2013; Accepted 26 August 2013

Academic Editor: Fumio Imazeki

Copyright © 2013 Federica Zarrilli et al. 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.

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.