[Diagnosis and treatment of hereditary angioedema with normal C1-inhibitor level].

Hereditary angioedema (HAE) with normal C1-inhibitor level is a rare potentially life-threatening disorder with autosomal dominant inheritance which was first described in 2000. Its clinical presentation is similar to HAE with C1-deficiency. The review is summarized data about its prevalence, mechanisms, genetics and diagnostic criteria. Different subtypes and treatment options (on demand, short term and long-term prophylaxis) are discussed. We describe family clinical cases of 2 female patients with normal C1-inhibitor and plasminogen gene mutation. Their features were late diagnosis (in 10 and 25 years after the onset of symptoms), family history (similar genetic mutation in 3 female members of the same family, including 1-asymtomatic) and combination of face, tongue, larynx and abdominal angioedema in patient and her sibling.

[Severe asthma: Characteristics of patients in clinical practice].

AIM: To provide clinical characteristics of severe asthma (SA) patients encountered in clinical practice. SUBJECTS AND METHODS: A cross-sectional cohort study was performed to cover 119 outpatients aged 22-82 years. SA was diagnosed according to the ERS/ATS criteria (2014). Spirometry and bronchodilator reversibility testing were carried out; fractional exhaled nitric oxide (FeNO) was measured; inhalant allergen hypersensitivity (skin prick and blood specific IgE testing) and peripheral blood eosinophil counts were estimated. Asthma control and asthma-related quality of life were assessed. RESULTS: 77% of the patients were found to have allergic asthma; in this case, house dust mites were leading allergens in the spectrum of sensitization. 82% of the patients were observed to have uncontrolled asthma and 76% had incompletely reversible bronchial obstruction. The airway eosinophilic inflammation markers (FeNO more than 25 ppb and eosinophil counts of more than 150 cells/µ) were elevated in 63% of the patients. Good compliance was noted in 61% of the patients. There were 27% of active smokers who had lower lung function and FeNO levels. The smokers showed a low compliance with inhaled glucocorticosteroid treatment. SA was concurrent with chronic obstructive pulmonary disease in 37% of the cases. CONCLUSION: SA is a heterogeneous disease. Traditional treatment is not always effective, as many patients, despite their treatment, have uncontrolled SA and continuously increased markers of airways eosinophilic inflammation. Monoclonal antibody therapy may promote success in treating this cohort of patients.

[Detection and quantitative determination of modified and/or denatured human serum albumin]. / Sposob obnaruzheniia i metod kolichestvennogo opredeleniia modifitsirovannogo i/ili denaturirovannogo syvorotochnogo al'bumina cheloveka.

A simple method of quantitative evaluation of modified human serum albumin (SA) was suggested for the use in clinical practice. It is based on the natural ability of modified SA to form complexes with endogenous urea. An SA content, which lost its secondary and tertiary structures, is indirectly predetermined by the quantity of urea bound with protein that is biochemically determined after hydrolysis of the studied sample of partially purified SA. The clinical value of the parameter that is being determined is under discussion.