CLINICAL EPIDEMIOLOGY AND MOLECULAR GENEALOGY OF HEREDITARY ANGIOEDEMA

Objective. To make a clinic-epidemiological and molecular-genealogic analysis of the hereditary anamnesis of patients suffering from hereditary angioedema (HAE).

Materials and methods. The records of fifty patients of the RSPC for Childish Oncology, Hematology, and Immunology including those of seven (14%) children with HAE type II and 43 (86%) subjects with HAE type I were analyzed.

Results. The median of the patients’ age when the first disease symptoms were observed was 12 yrs; of the disease diagnosing — 32.5 yrs the diagnosis being 17.5 yrs late. At the same time, HAE had been diagnosed at the asymptomatic stage at six patients basing on the mutation characteristic for their families.

Conclusion. No correlation was found between the C1 inhibitor function level and the severity score or the age at first attack. Moreover, there was no correlation between the different types of mutations and the clinical phenotype. Among the identified patients, the mutation hereditary type was detected in 42 (84%) patients confirming the significance for carrying out molecular genetic analyzes.

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Автор(ы): I. E. Guryanova и Skapavets K. Ya.