Pediatric Hematology/Oncology and ImmunopathologyPediatric Hematology/Oncology and ImmunopathologyВопросы гематологии/онкологии и иммунопатологии в педиатрии1726-17082414-9314Fund Doctors, Innovations, Science for Children610.24287/1726-1708-2017-16-4-35-42СтатьиGenetic and clinical characteristics of a group of patients with hereditary angioedema type 1 and 2Характеристика молекулярно-генетических дефектов и клинических особенностей в группе пациентов с наследственным ангионевротическим отеком 1-го и 2-го типовhttps://orcid.org/0000-0002-1669-8621KuzmenkoN. B.КузьменкоН.Б.
Russian Federation

MD, Heat of the Department of Optimization of Treatment of Immunodeficiencies

Russia 117997, Moscow, Samory Mashela st., 1

+7 (495) 287-6570, доб. 5541

plunge@list.ruhttps://orcid.org/0000-0002-2427-1417ViktorovaE. A.ВиктороваЕ.А.
Russian Federation
https://orcid.org/0000-0002-3974-5662PavlovaA. V.ПавловаА.В.
Russian Federation
https://orcid.org/0000-0003-0900-6874KurnikovaM. A.КурниковаМ.А.
Russian Federation
https://orcid.org/0000-0002-2354-2588LaberkoA. L.ЛаберкоА.Л.
Russian Federation
https://orcid.org/0000-0002-7634-2053RaikinaE. V.РайкинаЕ.В.
Russian Federation
https://orcid.org/0000-0002-3113-4939ShcherbinaA. Y.ЩербинаА.Ю.
Russian Federation
Dmitriy Rogachev National Medical Research Center of Pediatric Hematology, Oncology, ImmunologyФГБУ «Национальный медицинский исследовательский центр детской гематологии, онкологии и иммунологии им. Дмитрия Рогачева» Минздрава России09112017164354209082018Copyright ©; 2017, «D. Rogachev NMRCPHOI»Copyright ©; 2017, ФГБУ «НМИЦ ДГОИ им. Дмитрия Рогачева» Минздрава России2017«D. Rogachev NMRCPHOI»ФГБУ «НМИЦ ДГОИ им. Дмитрия Рогачева» Минздрава Россииhttps://creativecommons.org/licenses/by/4.0https://hemoncim.com/jour/article/view/6

Hereditary angioedema (HAE) is a rare disease with autosomal dominant inheritance predominantly caused by decrease of C1 inhibitor level and/or function as a result of SERPING1 (C1NH) gene mutations. HAE patients develop edema of variable severity and localization, often life-threatening. The data on correlation of SERPING1 defects and HAE clinical course is conflicting. Aim: To study the variability of genetic defects in HAE, their correlation with the severity of disease symptoms. The study group included 69 HAE patients from 30 families, as well as seven symptoms-free mutation carriers (all children). Mutations were assayed via direct sequencing and MLPA method. The patients were divided in two groups depending on the type of the mutation: group one included patients with potentially deleterious mutations (including the functional center R466C), the second – with less deleterious (missense) mutations, excluding R466C. We identified 27 different mutations, 11 have not been described previously. Exon 7 contained the most of them. We found a large proportion (5 out of 27) of large deletions. When disease severity was compared in two groups of patients we found it to be higher in the first group (Ме – 7 in the first group, Ме – 5 in the second, р = 0.03). Though clinical and laboratory data is enough to make the HAE diagnosis, molecular genetic testing is important for patients with HAE type 1 and 2, as well as for their symptoms-free relatives, as it allows an early diagnosis and prediction of the disease severity and a timely start of the targeted therapy.

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