Sveger, "Liver disease in alpha1-antitrypsin deficiency
detected by screening of 200,000 infants," The New England Journal of Medicine, vol.
A small number of cases, 1-2%, may be caused by a genetic condition, alpha1-antitrypsin deficiency
, in which a deficiency in an elastase inhibitor causes elastic fibers of the lung to be broken down.
The management consisted primarily in the exclusion of other causes of liver injury/cholestasis such as viral etiology (antibodies IgM antiHAV or a possible reactivation of HBV) other toxic, autoimmune hepatitis, Wilson disease, hemochromatosis, alpha1-antitrypsin deficiency
, shock liver, acute cholecystitis, cholangitis, Budd-Chiari syndrome, alcoholic liver disease, malignancy, coagulation disorders .
panniculitis: a histopathologic and immunopathologic study of four cases.
Combined liver-kidney transplantation in a 15-year-old boy with alpha1-antitrypsin deficiency
. J Hepatol 2002;36(4):565-568.
Trends in the diagnosis of symptomatic patients with alpha1-antitrypsin deficiency
between 1968 and 2003.
In the final step of the project, they took cells directly from a patient with alpha1-antitrypsin deficiency
and corrected the mutation exactly as they had with the established cell line.
: a model for conformational diseases.
to support research into alpha1-antitrypsin deficiency
, a genetic condition in which low levels of the essential blood protein alpha1-proteinase inhibitor, can cause emphysema.
: Biology, Pathogenesis, Clinical Manifestations, Therapy.
affects approximately 100,000 Europeans and a similar number in the United States, according to the Alpha-1 Foundation, a not-for-profit organization dedicated to increasing the awareness and early diagnosis of this life-threatening genetic disorder.
emphysema cases are people who have inherited from both parents the gene for alpha1-antitrypsin deficiency