Genetic Diseases That Predispose to Early Liver Cirrhosis

Author:

Scorza Manuela12ORCID,Elce Ausilia123ORCID,Zarrilli Federica14ORCID,Liguori Renato12,Amato Felice12ORCID,Castaldo Giuseppe12ORCID

Affiliation:

1. CEINGE—Biotecnologie Avanzate Scarl, Via Gaetano Salvatore 486, 80145 Napoli, Italy

2. Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università di Napoli Federico II, Via Sergio Pansini 5, 80131 Napoli, Italy

3. Università Telematica Pegaso, Piazza Trieste e Trento 48, 80132 Napoli, Italy

4. Dipartimento di Bioscienze e Territorio, Università del Molise, Contrada Fonte Lappone, Pesche, 86090 Isernia, Italy

Abstract

Inherited liver diseases are a group of metabolic and genetic defects that typically cause early chronic liver involvement. Most are due to a defect of an enzyme/transport protein that alters a metabolic pathway and exerts a pathogenic role mainly in the liver. The prevalence is variable, but most are rare pathologies. We review the pathophysiology of such diseases and the diagnostic contribution of laboratory tests, focusing on the role of molecular genetics. In fact, thanks to recent advances in genetics, molecular analysis permits early and specific diagnosis for most disorders and helps to reduce the invasive approach of liver biopsy.

Funder

Regione Campania

Publisher

Hindawi Limited

Subject

Hepatology

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