CABI Publishing

Alpha-1 antitrypsin (AAT) is the main circulating serine proteinase inhibitor. A number of studies suggest that AAT can also exhibit biological activity independent of inhibition of serine proteases. The aim of the study was to make experimental investigation of AAT influence on monocytes stimulated by bacterial endotoxyn and to analyze serum AAT concentration in patients with COPD in relation to smoking. Human blood monocytes were isolated from buffy coats. Serum biomarkers from COPD patients and culture supernatants from donors monocytes were analysed using commercial ELISA kits. AAT affects monocyte responses to LPS by regulating soluble CD14 release. Here we show that a short-term (up to 2 h) monocyte exposure to AAT leads to an increase of CD14 levels (p < 0.05). In parallel, a short-term (2 h) cell exposure to AAT significantly enhances TNFα release. However, AAT was found to have a dual effect on LPS-induced TNFα release. Thus, during the first 4 h AAT enhanced, while after 8, 12, 18 and 24 h it inhibited LPS-stimulated TNFα release. COPD smokers and ex-smokers showed higher alpha-1 antitrypsin and C-reactive protein serum concentration than neversmokers (p < 0.05), that may be important for quality of life and health state. Probably a rapid increase in AAT concentrations during various inflammatory and infectious conditions may enhance the magnitude of monocyte responses to endotoxin and subsequently accelerate resolution of the inflammatory reaction.

Kartagener’s syndrome is a rare autosomal recessive genetic disease with progressive damage of the respiratory system and situs inversus. Although the management of patients with Kartagener’s syndrome remains uncertain and evidence is limited, it is important to follow up these patients with an adequate and shared care system. This report presents a clinical case of Kartagener’s syndrome in a 25-year-old woman. Computed tomography showed dextrocardia and bronchiectasis. After 7 years, good treatment results were achieved: radiological findings and lung function were improved. The present case demonstrates the complex interrelationship among genetic variation and a proper nonspecific management of Kartagener’s syndrome.

Alpha 1-antitrypsin deficiency is a genetic risk factor for manifestation of COPD and chronic liver diseases. There is an ongoing worldwide discussion concerning the role of serpins (serine protease inhibitors) in tumour genesis. Protease inhibitors such as alpha 1-antitrypsin have generally been considered to counteract tumour progression and metastases because of their ability to inhibit proteases. In this case report, we analyze relationship between inherited alpha-1 antitrypsin deficiency and chondrosarcoma. A 47-year-old woman was admitted to the hospital with relapse signs of humerus chondrosarcoma. The patient had also a history of COPD. After chest X-ray and CT, alpha 1-antitrypsin deficiency was suspected. Inherited alpha-1 antitrypsin deficiency (PiZZ homozygous genotype) was confirmed. Alpha 1-antitrypsin deficiency might have facilitated the development of chondrosarcoma. Because of low incidence rate of such diseases, we presume that there is a slight chance for such rare disorders to manifest concurrently in the same patient.