THE GENETIC AND CLINICAL ASPECTS OF HAE, NEWPOSSIBILITIES OF THE DISEASE EXACERBATIONS TREATMENT
- Authors: Latysheva T.V.1, Polyakov AV2, Dmitrieva AV1, Medunitsyna EN1, Latysheva TV3, Polyakov AV4, Dmitrieva AV3, Medunitsyna EN3
-
Affiliations:
- ФГБУ «ГНЦ Институт иммунологии» ФМБА России
- Государственное учреждение Медико-генетический научный центр РАМН
- Institute of Immunology Moscow, Russia
- Research Centre for Medical Genetics, RAMS
- Issue: Vol 8, No 3 (2011)
- Pages: 14-18
- Section: Articles
- URL: https://journals.rcsi.science/raj/article/view/121124
- DOI: https://doi.org/10.36691/RJA774
- ID: 121124
Cite item
Open Access
Access granted
Subscription Access
Abstract
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.
Keywords
About the authors
Tat'yana Vasil'evna Latysheva
ФГБУ «ГНЦ Институт иммунологии» ФМБА России
Email: tvlat@mail.ru
ФГБУ «ГНЦ Институт иммунологии» ФМБА России
A V Polyakov
Государственное учреждение Медико-генетический научный центр РАМНГосударственное учреждение Медико-генетический научный центр РАМН
A V Dmitrieva
ФГБУ «ГНЦ Институт иммунологии» ФМБА РоссииФГБУ «ГНЦ Институт иммунологии» ФМБА России
E N Medunitsyna
ФГБУ «ГНЦ Институт иммунологии» ФМБА РоссииФГБУ «ГНЦ Институт иммунологии» ФМБА России
T V Latysheva
Institute of Immunology Moscow, RussiaInstitute of Immunology Moscow, Russia
A V Polyakov
Research Centre for Medical Genetics, RAMSResearch Centre for Medical Genetics, RAMS
A V Dmitrieva
Institute of Immunology Moscow, RussiaInstitute of Immunology Moscow, Russia
E N Medunitsyna
Institute of Immunology Moscow, RussiaInstitute of Immunology Moscow, Russia
References
- 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.
- Хаитов Р.М., Гущин И.С., Ильина Н.И. и соавт. Клиническая аллергология. Под ред. Р.М. Хаитова. М., 2002, с. 580-582.
- Bruce L., Zuraw M.D. Hereditary Angioedema. New Eng. j. Med. 2008, p. 1027-1036.
- 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.
- 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.
- Dewald G., Bork K. Missense mutations in the coagulation factor XII (Hageman factor) gene in hereditary angioedema with normal C1 inhibitor. Biochem. Biophys. Res. Communications. 2006, v. 343, p. 1286-1289.
- Weinstock L.B, Kothari T., Sharma R.N., Rosenfeld S.I. Recurrent abdominal pain as the sole manifestation of hereditary angioedema in multiple family members. Gastroenterology. 1987, v. 93 (5), p. 1116-1118.
- Cugno M., Castelli R., Cicardi M. Angioedema due to acquired C1 inhibitor deficiency: A bridging condition between autoimmunity and lymphoproliferation. Autoimmunity Reviews. 2008, v. 8, p. 156-159.
- Svetomir N., Markovic, David j. et al. Acquired C1 Esterase Inhibitor Deficiency. Ann. Intern. Med. 2000, v. 132, p. 144-150.
- Lear S., Heelan B., Longhurst H. Наследственный ангионевротический отек: рациональная терапия улучшает качество жизни и может спасти жизнь пациента. Аллер- гология. Научно-практич. журн. 2004, № 4, с. 48-54.
- Davis A.E., Whitehead A.S., Harrison R.A. et al. Human inhibitor of the first component of complement, C1: characterization of cDNA clones and localization of the gene to chromosome 11. Biochemistry. 1986, v. 83 (10), p. 3161-3165.
- Varga L., Bors A., Tordai A. et al. Diagnostic pitfalls in hereditary angioedema. Abstract Book. XIth Meeting of the European Society for Immunodeficiencies (ESID). 2010, p. 137.
- Quastel M., Harrison R., Cicardi M. et al. Behavior in vivo of normal and dysfunctional C1 inhibitor in normal subjects and patients with hereditary angioneurotic edema. journal Clinical Investigation. 1983, v. 71 (4) p. 1041-1046.
- Kramer j., Rosen F.S., Colten H.R. et al. Transinhibition of C1-inhibitor synthesis in type I hereditary angioneurotic edema. journal Clinical Investigation. 1993, v. 91 (3), p. 1258-1262.
- Verpy E., Biasotto M., Brai M. et al. Exhaustive mutation scanning by fluorescence-assisted mismatch analysis discloses new genotype-phenotype correlations in angiodema. Am. j. Hum. Genet. 1996, v. 59 (2) p. 308-319.
