Metabolic liver disease in the young adult.
Best Pract Res Clin Gastroenterol
; 17(2): 307-22, 2003 Apr.
Article
em En
| MEDLINE
| ID: mdl-12676121
ABSTRACT
This chapter describes the gene mutations, phenotypes, diagnosis and therapy of the common metabolic liver diseases in young adulthood haemochromatosis, Wilson disease, alpha(1)-anti-trypsin deficiency and cystic fibrosis. The remarkable variability of the phenotypical expression of the mutated genotypes makes screening recommendations and the establishment of prognosis for these liver disorders in young adults problematical. The diagnosis and therapy of the young adult with metabolic liver disease is discussed, with an emphasis on maintaining quality-of-life and balancing the importance of early intervention with the stigmatization of the diagnosis of potentially life-threatening liver disease. There is a critical need for the development of biochemical markers that would predict the risk of expression of clinical phenotypes and prognosis.
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Base de dados:
MEDLINE
Assunto principal:
Deficiência de alfa 1-Antitripsina
/
Fibrose Cística
/
Hemocromatose
/
Degeneração Hepatolenticular
/
Mutação
Tipo de estudo:
Guideline
/
Prognostic_studies
Limite:
Adult
/
Humans
Idioma:
En
Revista:
Best Pract Res Clin Gastroenterol
Assunto da revista:
GASTROENTEROLOGIA
Ano de publicação:
2003
Tipo de documento:
Article
País de afiliação:
Estados Unidos