ALPHA-I-antitrypsin deficiency associated with n chronic obstructive airway disease was recognized in 1963 by Laurell and Ericksson. I In 1969, . Sharp' described the first cases of alpha-l-antitrypsin-deficiency disease in children with cirrhosis. Since then, this ·inborn error has been recognized as one of the more common factors in cirrhosis of infancy and childhood,] including "neonatal hep...

The BODE (body mass index, airflow obstruction, dyspnoea and exercise capacity) index is used to decide on referral and transplantation of patients with chronic obstructive pulmonary disease (COPD). The BODE index has not been validated in patients with α1-antitrypsin deficiency, who account for 15% of COPD patients undergoing lung transplantation. We sought to validate the BODE index in α1-ant...

Background—Because elastase in 1-antitrypsin deficiency may attack elastin in the arterial wall, we tested whether 1-antitrypsin deficiency is associated with reduced blood pressure, risk of ischemic cerebrovascular (ICVD) and ischemic heart disease (IHD), and longevity. Methods and Results—We genotyped 7963 control subjects from the adult general population of Denmark, 1131 Danish patients wit...

BACKGROUND Because elastase in alpha(1)-antitrypsin deficiency may attack elastin in the arterial wall, we tested whether alpha(1)-antitrypsin deficiency is associated with reduced blood pressure, risk of ischemic cerebrovascular (ICVD) and ischemic heart disease (IHD), and longevity. METHODS AND RESULTS We genotyped 7963 control subjects from the adult general population of Denmark, 1131 Dan...

BACKGROUND Previous estimates of the survival times of patients with alpha 1-antitrypsin deficiency have been based on selected patients. METHODS The survival times of 397 patients with severe alpha 1-antitrypsin deficiency identified by pulmonary impairment (index cases) or through family studies (non-index cases) were compared. RESULTS The overall median survival time was 54.5 years with ...

Alpha-1-Antitrypsin (AAT) deficiency associated panniculitis is commonly included in the dermatologist's differential diagnosis but the disease is rarely ever diagnosed or discussed. The pathophysiology, clinical presentation, histopathology, diagnosis, and treatment of AAT deficiency panniculitis will be reviewed.

introduction: α1-antitrypsin deficiency (α1-atd) is one of the most common genetic disorders in white race, a usual cause of liver disease in children, and hepatopulmonary involvement in children and adult. the aim of this case description is presenting a child with early lung disease without liver parenchymal disorder. case presentation: we describe a 13 year old boy because of exertional dysp...

A 16-year-old girl with advanced cirrhosis and severe alpha 1-antitrypsin deficiency of the homozygous Pi ZZ phenotype was treated by orthotopic liver transplantation. After replacement of the liver with a homograft from a donor with the normal Pi MM phenotype, the alpha 1-antitrypsin concentration in the recipient's serum rose to normal; it had the Pi MM phenotype. Two and a third years later,...