pulmoПульмонологияPULMONOLOGIYA0869-01892541-9617Scientific and Practical Journal “PULMONOLOGIYA” LLC10.18093/0869-0189-2015-25-4-505-508pulmo-612Research ArticleЗАМЕТКИ ИЗ ПРАКТИКИPRACTICAL NOTESДефицит α1-антитрипсина в практике пульмонологаα1-Antitripsin deficiency in a pulmonologist' practiceСоловьеваО. Г.Solov'evaO. G.

д. м. н., профессор кафедры гистологии с эмбриологией ГБОУ ВПО "Тюменская государственная медицинская академия" Минздрава России, врачпульмонолог Консульта тивнодиагностической поликлиники им. Е.М.Нигинского; тел.: (345) 2906262, (345) 2203093

MD, Professor at Department of Histology and Embryology, E.M.Niginskiy Tyumen' State Medical Academy, Healthcare Ministry of Russia; pulmonologist at E.M.Niginskiy Reference Outpatient Clinic; tel.: (345) 2906262, (345) 2203093

solog.fedor@mail.ruГБОУ ВПО "Тюменская государственная медицинская академия" Минздрава России: 625030, Тюмень, ул. Одесская, 54 Консультативнодиагностическая поликлиника им. Е.М.Нигинского: 625027, Тюмень, ул. Мельникайте, 89аРоссияE.M.Niginskiy Tyumen' State Medical Academy, Healthcare Ministry of Russia: 54, Odesskaya str., Tyumen', 625030, Russia E.M.Niginskiy Reference Outpatient Clinic: 89A, Mel'nikayte str., Tyumen', 625027, RussiaRussian Federation201521102015254505508Copyright © Соловьева О.Г., 20152015Соловьева О.Г.Solov'eva O.G.This work is licensed under a Creative Commons Attribution 4.0 License.https://journal.pulmonology.ru/pulm/article/view/612

Дефицит α1 антитрипсина (ААТ) – одно из редких заболеваний респираторной системы. Генетические факторы риска возникновения ХОБЛ являются причиной дефицита ААТ с развитием первичной эмфиземы легких. Ключевая роль в подтверждении диагноза принадлежит генотипированию ААТ. Раннее выявление дефицитных фенотипов ААТ необходимо для разработки программы профилактики и лечения хронической обструктивной болезни легких с целью замедления прогрессирования эмфизематозных изменений в легких. Представлен клинический случай наследственной недостаточности ААТ у пациента с дефицитным фенотипом PiZZ. Предложен алгоритм диагностики заболевания.

α1 Antitripsin deficiency (AAT) is an orphan respiratory disease. Genetic risk factors of chronic obstructive pulmonary disease (COPD) can cause AAT and primary emphysema of the lungs. AAT genotyping plays the key role for diagnosis. Early detection of AAT deficient phenotypes is crucial for prevention and treatment of COPD and slowing emphysema progression. A case of inherited AAT deficiency in a patient with deficient phenotype PiZZ is described in this article. A diagnostic algorithm for AAT is proposed.

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The authors declare that there are no conflicts of interest present.