Obstructive lung disease and trypsin inhibitors in alpha-1-antitrypsin deficiency
. Scand J Clin Lab Invest 1967;19:205-8.
(AATD) is a devastating disease with a lack of adequate therapies.
It can also be due to a genetic condition called alpha-1-antitrypsin deficiency
Hereditary hemochromatosis, alpha-1-antitrypsin deficiency
and Wilson's disease.
Aroori, "Delayed diagnosis of alpha-1-antitrypsin deficiency
following post-hepatectomy liver failure: a case report," World Journal of Gastroenterology, vol.
Laboratory evaluation for metabolic causes of jaundice, including alpha-1-antitrypsin deficiency
, cystic fibrosis, viral hepatitis, and glycogen storage disease, was performed, and while awaiting these results, an evaluation for BA and other surgical causes of conjugated hyperbilirubinemia was concurrently initiated.
. Lancet 2005;365: 2225-36.
Her service also screens all patients for cystic fibrosis (CF) and alpha-1-antitrypsin deficiency
(Alpha-1) both for levels and phenotype because they've found that even phenotypic MZ heterozygotes do not clear infection well.
Augmentation therapy for emphysema due to alpha-1-antitrypsin deficiency
. Ther Adv Respir Dis 2008;2(1):13-21.
Clinical features and history of the destructive lung disease associated with alpha-1-antitrypsin deficiency
of adults with pulmonary symptoms.
Three to 5 percent of emphysema patients have a genetic defect resulting in severe alpha-1-antitrypsin deficiency
. These people tend to develop symptoms in their 20s and 30s rather than in middle or old age as most other emphysema patients do.
Bals, "Alpha-1-antitrypsin deficiency
," Best Practice & Research Clinical Gastroenterology, vol.