Review article
Metabolic Liver Diseases
Mirjana Kalauz
Marina Premužić
Abstract
The most common metabolic liver diseases
are Wilson’s disease (WD), hemochromatosis and alpha-1
antitrypsin defi ciency. WD is an autosomal recessive disorder
of copper metabolism leading to its accumulation in the body
which results in a number of possible hepatic, neurological
and psychiatric sequelae. Hemochromatosis is the most common
genetic disease in white persons of northern European
descent. The features of iron overload are often unrecognized
and diagnosed only in the setting of advanced disesae. If left
untreated, WD and hemochromatosis are a fatal conditions.
On the other hand, patients detected early and treated with
copper/iron reduction therapy, including penicillamine/phlebotomy,
can have a normal life expectancy. Given the genetic
basis of the condition it is vital that counselling and screening
of the patient’s fi rst-degree relatives be carried out. Alpha-1 antitrypsin
defi ciency is the most common metabolic liver disesae
in childhood. There is currently no specifi c treatment for alpha-1
antitrypsin defi ciency, although researchers are exploring different
techniques of possible gene therapy.
Keywords
metabolic liver diseases; Wilson’s disease; hemochromatosis; alpha-1 antitrypsin defi ciency
Hrčak ID:
18842
URI
Publication date:
26.1.2006.
Visits: 10.783 *