Genetic Diseases That Predispose to Early Liver Cirrhosis

Genetic Diseases That Predispose to Early Liver Cirrhosis

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 a...

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Main Authors: Manuela Scorza, Ausilia Elce, Federica Zarrilli, Renato Liguori, Felice Amato, Giuseppe Castaldo
Format: Article
Language:English
Published: Hindawi Limited 2014-01-01
Series:International Journal of Hepatology
Online Access:http://dx.doi.org/10.1155/2014/713754
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spelling doaj-f8ea6517d61a4961814c2c98eae961372020-11-25T00:54:41ZengHindawi LimitedInternational Journal of Hepatology2090-34482090-34562014-01-01201410.1155/2014/713754713754Genetic Diseases That Predispose to Early Liver CirrhosisManuela Scorza0Ausilia Elce1Federica Zarrilli2Renato Liguori3Felice Amato4Giuseppe Castaldo5CEINGE—Biotecnologie Avanzate Scarl, Via Gaetano Salvatore 486, 80145 Napoli, ItalyCEINGE—Biotecnologie Avanzate Scarl, Via Gaetano Salvatore 486, 80145 Napoli, ItalyCEINGE—Biotecnologie Avanzate Scarl, Via Gaetano Salvatore 486, 80145 Napoli, ItalyCEINGE—Biotecnologie Avanzate Scarl, Via Gaetano Salvatore 486, 80145 Napoli, ItalyCEINGE—Biotecnologie Avanzate Scarl, Via Gaetano Salvatore 486, 80145 Napoli, ItalyCEINGE—Biotecnologie Avanzate Scarl, Via Gaetano Salvatore 486, 80145 Napoli, ItalyInherited 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.http://dx.doi.org/10.1155/2014/713754
collection DOAJ
language English
format Article
sources DOAJ
author Manuela Scorza
Ausilia Elce
Federica Zarrilli
Renato Liguori
Felice Amato
Giuseppe Castaldo
spellingShingle Manuela Scorza
Ausilia Elce
Federica Zarrilli
Renato Liguori
Felice Amato
Giuseppe Castaldo
Genetic Diseases That Predispose to Early Liver Cirrhosis
International Journal of Hepatology
author_facet Manuela Scorza
Ausilia Elce
Federica Zarrilli
Renato Liguori
Felice Amato
Giuseppe Castaldo
author_sort Manuela Scorza
title Genetic Diseases That Predispose to Early Liver Cirrhosis
title_short Genetic Diseases That Predispose to Early Liver Cirrhosis
title_full Genetic Diseases That Predispose to Early Liver Cirrhosis
title_fullStr Genetic Diseases That Predispose to Early Liver Cirrhosis
title_full_unstemmed Genetic Diseases That Predispose to Early Liver Cirrhosis
title_sort genetic diseases that predispose to early liver cirrhosis
publisher Hindawi Limited
series International Journal of Hepatology
issn 2090-3448
2090-3456
publishDate 2014-01-01
description 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.
url http://dx.doi.org/10.1155/2014/713754
work_keys_str_mv AT manuelascorza geneticdiseasesthatpredisposetoearlylivercirrhosis
AT ausiliaelce geneticdiseasesthatpredisposetoearlylivercirrhosis
AT federicazarrilli geneticdiseasesthatpredisposetoearlylivercirrhosis
AT renatoliguori geneticdiseasesthatpredisposetoearlylivercirrhosis
AT feliceamato geneticdiseasesthatpredisposetoearlylivercirrhosis
AT giuseppecastaldo geneticdiseasesthatpredisposetoearlylivercirrhosis
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