α1-antitrypsin deficiency as a prototype of pulmonary emphysema

Alpha antitrypsin deficiency and pulmonary emphysema.

An association between a genetically determined deficiency of the serum enzyme al antitrypsin and pulmonary emphysema is now well established. Serum antitryptic activity was measured in 103 patients suspected of having emphysema. Eighty-seven fulfilled the diagnostic criteria for emphysema and, of these, 16 had deficient levels, 5 had intermediate levels, and 66 had normal levels. The results o...

Ventilation inhomogeneity in α1-antitrypsin deficient emphysema

Alpha-1 antitrypsin deficiency with severe pulmonary emphysema.

Alpha-1 antitrypsin (AAT) deficiency is a hereditary disorder characterized by an early onset of emphysema. While this disease is common in the Caucasian population, it is quite rare in Japan. To date, only 15 traits have been reported and it can be speculated that many cases of this genetic deficiency may have been overlooked. We report an additional case of AAT deficiency with severe emphysem...

Molecular Mechanism of Z α1-Antitrypsin Deficiency*

The Z mutation (E342K) of α1-antitrypsin (α1-AT), carried by 4% of Northern Europeans, predisposes to early onset of emphysema due to decreased functional α1-AT in the lung and to liver cirrhosis due to accumulation of polymers in hepatocytes. However, it remains unclear why the Z mutation causes intracellular polymerization of nascent Z α1-AT and why 15% of the expressed Z α1-AT is secreted in...

α1-Antitrypsin deficiency: count me in please!

Respiratory medicine is facing formidable challenges in the 21st century. Indeed, most respiratory medical research is becoming interconnected, translational and transnational, all embedded within so-called “planetary health” [1]. However, renewing estimates and trends from classical, descriptive epidemiology, including how many patients of a given condition are around, and how many are expecte...