References

pulmo

Пульмонология

PULMONOLOGIYA

0869-01892541-9617

Scientific and Practical Journal “PULMONOLOGIYA” LLC

10.18093/0869-0189-2018-28-3-273-295

pulmo-998

Research Article

КЛИНИЧЕСКИЕ РЕКОМЕНДАЦИИ

CLINICAL GUIDELINES

Диагностика и лечение легочной патологии при дефиците альфа-1-антитрипсина: доклад Европейского респираторного общества

Diagnosis and treatment of pulmonarydisease in α1-antitrypsin deficiency: a statement of European Respiratory Society

Редакционная

Статья

Editorial

Article

2018

30072018

283273295

2018

Редакционная С.

Editorial A.

Данная работа распространяется под лицензией Creative Commons Attribution 4.0.

This work is licensed under a Creative Commons Attribution 4.0 License.

https://journal.pulmonology.ru/pulm/article/view/998

Дефицит альфа-1-антитрипсина (ААТ) – наиболее распространенное наследственное заболевание взрослых, связанное с повышенным риском развития эмфиземы легких и патологии печени. Поражение легких при дефиците ААТ тесно связано с курением, но даже у никогда не куривших больных может развиться прогрессирующее поражение легких, вызванное этим генетическим дефектом. У многих больных с дефицитом ААТ болезнь остается недиагностированной и, соответственно, такие больные не получают должного лечения.

В 2003 г. опубликован совместный доклад Американского Торакального Общества и Европейского Респираторного Общества по дефициту ААТ. В последующие годы появились новые, более точные и дешевые генетические методы диагностики, разработаны новые конечные показатели для использования в клинических исследованиях, выполнены новые наблюдательные и рандомизированные клинические исследования, представившие новые доказательства безопасности и эффективности заместительной терапии, которая сегодня остается единственным методом специфической терапии поражения легких при дефиците ААТ. Поскольку дефицит ААТ является редким заболеванием, важно создавать национальные и международные регистры для получения проспективной информации о естественном течении этого заболевания. Больные с дефицитом ААТ должны наблюдаться и лечиться в национальных экспертных центрах; следует совместно обсуждать любые разногласия в ведении таких больных в Европе.

Alfa-1-antitrypsin deficiency (AATD) is the most common hereditary disorder in adults. It is associated with an increased risk of developing pulmonary emphysema and liver disease. The lung injury in AATD is closely associated with smoking, but progressive lung disease could occur even in never-smokers. A number of individuals with AATD remain undiagnosed and therefore do not receive appropriate care and treatment. The most recent international document on AATD was the joint statement of the American Thoracic Society and the European Respiratory Society published in 2003. Thereafter, there has been a continuous development of novel, more accurate and less expensive genetic diagnostic methods. Furthermore, new outcome parameters have been developed and validated for use in clinical trials and a new series of observational and randomized clinical trials have provided more evidence concerning the efficacy and safety of augmentation therapy, the only specific treatment available for the pulmonary disease associated with AATD. As AATD is a rare disease, it is important to createnational and international registries and to collect information prospectively about the natural history of the disease. Management of AATD patients must be supervised by national or regional expert centres and inequalities in access to therapies across Europe should be addressed.

дефицит альфа-1-антитрипсинаэмфизема легкихгенетические методы диагностикирегистрзаместительная терапия

alfa-1-antitrypsin deficiencypulmonary emphysemageneticsdiagnosisaugmentation therapyregistry

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