Author:
Latysheva Tat'yana Vasil'evna,Polyakov A V,Dmitrieva A V,Medunitsyna E N,Latysheva T V,Polyakov A V,Dmitrieva A V,Medunitsyna E N
Abstract
Continued study of genetic and clinical aspects of hereditary angioedema (HAE) types I and II, which belongs
to the group of primary (genetically determined) immunodeficiencies and is connected with the qualitative or
quantitative genetically determined defect of C1 Inhibitor. HAE is an «orphan» disease and requires the establishment
of a Government strategy for patients with this rare diagnosis. To improve the quality of HAE diagnostics,
the Institute of Immunology jointly with Medical Genetics Centre started the work in order to develop and
introduce the methods of genetic screening of patients with recurrent angioedema into the national practice.
In the world as well as in Russian medical practice a new generation of medicines for the treatment of HAE attacks
has been appeared. Integrated assessment of the problems of diagnostics and treatment of HAE and their
consistent solution will significantly improve the quality of life of HAE patients.
Reference15 articles.
1. Викулов Г.Х., Феденко Е.С., Латышева Т.В. и соавт. Дифференциальная диагностика и принципы терапии наследственного ангионевротического отека (анализ клинического наблюдения). Леч. врач. 2004, № 3, с. 28-34.
2. Хаитов Р.М., Гущин И.С., Ильина Н.И. и соавт. Клиническая аллергология. Под ред. Р.М. Хаитова. М., 2002, с. 580-582.
3. Bruce L., Zuraw M.D. Hereditary Angioedema. New Eng. j. Med. 2008, p. 1027-1036.
4. Wouters D., Wagenaar-Bos I., Marieke van Ham & Zeerleder S. C1 inhibitor: just a serine protease inhibitor? New and old considerations on therapeutic applications of C1-inhibitor. Expert. Opin. Biol. Ther. 2008, v. 8 (8), p. 1225-1240.
5. Cichon S., Martin L., Hennies H.Ch. et al. Increased Activity of Coagulation Factor XII (Hageman Factor) Causes Hereditary Angioedema Type III. Am. j. Human Genetics. 2006, v. 79, p. 1098-1104.