pulmoПульмонологияPULMONOLOGIYA0869-01892541-9617Scientific and Practical Journal “PULMONOLOGIYA” LLC10.18093/0869-0189-2023-33-2-151-169pulmo-4223Research ArticleПЕРЕДОВАЯ СТАТЬЯEDITORIALНаследственные заболевания легких и современные возможности генетической диагностикиHereditary lung diseases and modern possibilities of genetic testinghttps://orcid.org/0000-0002-5999-2150АвдеевС. Н.AvdeevS. N.

Авдеев Сергей Николаевич - доктор медицинских наук, профессор, академик Российской академии наук, проректор по научной и инновационной работе, заведующий кафедрой пульмонологии Института клинической медицины имени Н.В.Склифосовского Первый МГМУ имени И.М.Сеченова Сеченовский Университет; ведущий научный сотрудник Научно-исследовательский институт пульмонологии Федерального медико-биологического агентства; директор Национального медицинского исследовательского центра по профилю «Пульмонология», главный внештатный специалист-пульмонолог Министерства здравоохранения РФ.

119991, Москва, ул. Трубецкая, 8, стр. 2; 115682, Москва, Ореховый бульвар, 28; тел.: (499) 246-75-18

Sergey N. Avdeev - Doctor of Medicine, Professor, Academician of Russian Academy of Sciences, Vice-Rector for Research and Innovation, Head of the Department of Pulmonology, N.V.Sklifosovsky Institute of Clinical Medicine, I.M.Sechenov First Moscow State Medical University (Sechenov University); Leading Researcher, Federal Pulmonology Research Institute, Federal Medical and Biological Agency of Russia; Director, National Medical Research Center for the profile “Pulmonology”, Chief Freelance Pulmonologist of the MH RF.

Ul. Trubetskaya 8, build. 2, Moscow, 119991; Orekhovyy bul’var 28, Moscow, 115682

; tel.: (499) 246-75-18

serg_avdeev@list.ruhttps://orcid.org/0000-0001-6395-0407КондратьеваЕ. И.KondratyevaE. I.

Кондратьева Елена Ивановна - доктор медицинских наук, профессор, руководитель научноклинического отдела муковисцидоза Медико-генетический научный центр имени академика Н.П. Бочкова; заместитель директора по науке Научно-исследовательский клинический институт детства Министерства здравоохранения Московской области

115522, Москва, ул. Москворечье, 1; 115093, Москва, ул. Большая Серпуховская, 62; тел.: (495) 111-03-03

Elena I. Kondratyeva - Doctor of Medicine, Professor, Head of the Scientific and Clinical Department of cystic fibrosis, Research Centre for Medical Genetics; Deputy Director for Science, Moscow Region State Budgetary Healthcare Institution “Research Clinical Institute of Childhood, Ministry of Health of the Moscow Region.

Ul. Moskvorechye 1, Moscow, 115522; ul. Bolshaya Serpukhovskaya 62, Moscow, 115093

; tel.: (495) 111-03-03

elenafpk@mail.ruhttps://orcid.org/0000-0002-2209-7531Намазова-БарановаЛ. С.Namazova-BaranovaL. S.

Намазова-Баранова Лейла Сеймуровна - доктор медицинских наук, профессор, академик Российской академии наук, руководитель Научно-исследовательского института педиатрии и охраны здоровья детей ЦКБ РАН; заведующая кафедрой факультетской педиатрии педиатрического факультета РНИМУ имени Н.И. Пирогова; главный внештатный детский специалист по профилактической медицине Министерства здравоохранения Российской Федерации, президент Союза педиатров России.

117593, Москва, Литовский бульвар, 1А; 115682, Москва, Ореховый бульвар, 28; тел.: (499) 400-47-33

Leyla S. Namazova-Baranova - Doctor of Medicine, Professor, Academician of the Russian Academy of Sciences, Head of Pediatrics and Child Health Research Institute of the CCH RAS; Head of Faculty Pediatrics Department, Pediatric Faculty, N.I.Pirogov Federal RNRMU; Chief freelance pediatric specialist in preventive medicine, Healthcare Ministry of the Russian Federation, President of the Union of Pediatricians.

Litovskiy bulv. 1A, Moscow, 117593; ul. Ostrovityanova 1, Moscow, 117997

; tel.: (499) 400-47-33

orgkomitet@pediatr-russia.ruhttps://orcid.org/0000-0002-3133-8018КуцевС. И.KutsevS. I.

Куцев Сергей Иванович - доктор медицинских наук, профессор, академик Российской академии наук, директор Медико-генетический научный центр имени академика Н.П. Бочкова; главный внештатный специалист по медицинской генетике Министерства здравоохранения Российской Федерации

115522, Москва, ул. Москворечье, 1; тел.: (499) 612-00-37

Sergey I. Kutsev - Doctor of Medicine, Professor, Academician of the Russian Academy of Sciences, Research Centre for Medical Genetics; Chief Freelance Specialist in Medical Genetics of the Ministry of Health of the RF.

Ul. Moskvorechye 1, Moscow, 115522; tel.: (499) 612-00-37

mgnc@med-gen.ruФедеральное государственное автономное образовательное учреждение высшего образования «Первый Московский государственный медицинский университет имени И.М.Сеченова» Министерства здравоохранения Российской Федерации (Сеченовский Университет); Федеральное государственное бюджетное учреждение «Научно-исследовательский институт пульмонологии» Федерального медико-биологического агентства РоссииРоссияFederal State Autonomous Educational Institution of Higher Education I.M.Sechenov First Moscow State Medical University of the Ministry of Health of the Russian Federation (Sechenov University); Federal Pulmonology Research Institute, Federal Medical and Biological Agency of RussiaRussian FederationФедеральное государственное бюджетное научное учреждение «Медико-генетический научный центр имени академика Н.П. Бочкова» Министерства науки и высшего образования Российской Федерации; Государственное бюджетное учреждение здравоохранения Московской области «Научно-исследовательский клинический институт детства Министерства здравоохранения Московской области»РоссияFederal State Budgetary Scientific Institution “Research Centre for Medical Genetics”, Ministry of Science and Higher Education of the Russian Federation; Moscow Region State Budgetary Healthcare Institution “Research Clinical Institute of Childhood, Ministry of Health of the Moscow Region”Russian FederationНаучно-исследовательский институт педиатрии и охраны здоровья детей Федерального государственного бюджетного учреждения «Центральная клиническая больница Российской академии наук» Министерства науки и высшего образования Российской Федерации; Федеральное государственное бюджетное учреждение «Научно-исследовательский институт пульмонологии» Федерального медико-биологического агентства РоссииРоссияPediatrics and Child Health Research Institute of the “Central Clinical Hospital of the Russian Academy of Sciences”, Ministry of Education and Science of Russia; Pirogov Russian National Research Medical University (Pirogov Medical University), Healthcare Ministry of RussiaRussian FederationФедеральное государственное бюджетное научное учреждение «Медико-генетический научный центр имени академика Н.П.Бочкова» Министерства науки и высшего образования Российской ФедерацииРоссияFederal State Budgetary Scientific Institution “Research Centre for Medical Genetics”, Ministry of Science and Higher Education of the Russian FederationRussian Federation202312042023332151169Copyright © Авдеев С.Н., Кондратьева Е.И., Намазова-Баранова Л.С., Куцев С.И., 20232023Авдеев С.Н., Кондратьева Е.И., Намазова-Баранова Л.С., Куцев С.И.Avdeev S.N., Kondratyeva E.I., Namazova-Baranova L.S., Kutsev S.I.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/4223

На сайте Европейского респираторного общества (https://europeanlung.org/en/information-hub/factsheets/rare-and-orphan-lung-diseases/) приводится принятый в Европейском Союзе следующий критерий отнесения заболевания к редкому (орфанному): заболевание должно встречаться в популяции с частотой < 1 человека на 2 000 населения. Одним из хорошо изученных редких заболеваний легких является муковисцидоз (МВ) (кистозный фиброз), зачастую рассматриваемый как модель оказания медицинской помощи пациентам с другими орфанными заболеваниями. Однако в отличие от МВ, для многих других редких заболеваний действенные подходы к их раннему выявлению и эффективной терапии не разработаны. Более того, их истинная частота в популяции остается неизвестной, т. к. эти заболевания часто вообще не диагностируются. Одной из проблем диагностики редких заболеваний является недостаточная информированность врачей об этих болезнях.

Целью обзора явилось описание краткой клинико-генетической характеристики редких наследственных заболеваний легких, оценка современных возможностей их генетической диагностики, а также повышение осведомленности врачей. Использовались данные 95 статей по наследственным заболеваниям легких.

Результаты

Результаты. Приведены результаты анализа заболеваний легких, сопровождающихся бронхоэктазами, фиброзом, пневмотораксом и наследственными болезнями накопления. Подробно рассмотрены генетика, диагностика, в т. ч. трехэтапное молекулярно-генетическое тестирование при МВ. Диагностика заболевания разработана как при неонатальном скрининге, так и по клиническим проявлениям. Появление таргетной терапии, основанной на генетическом диагнозе, делает неонатальный скрининг еще более актуальным, при этом продолжительность жизни пациентов увеличивается. Регистр пациентов создается в течение 10 лет. Приводится подробный анализ диагностики первичной цилиарной дискинезии (ПЦД) с учетом отсутствия единого метода — «золотого стандарта» диагностики ПЦД, как при МВ. Обсуждаются генетические основы наиболее частых наследственных заболеваний и современные возможности их диагностики (секвенирование генов, ответственных за развитие орфанных заболеваний, с использованием стандартных методов секвенирования по Сэнгеру и секвенирование нового поколения, создание мультигенных панелей).

Заключение

Заключение. Новые молекулярно-диагностические методы помогут не только понять природу орфанных заболеваний легких, но и позволят изучить их эпидемиологию и создать новые диагностические алгоритмы. Исследование генетических причин редких заболеваний имеет фундаментальное значение, т. к. может служить основой для разработки таргетной терапии.

The European Respiratory Society website gives the following criterion for the disease to be classified as rare (orphan) - the disease occurs in 1 person per 2 000. One of the well-studied rare lung diseases is cystic fibrosis (CF), which is often considered a medical care model for patients with other orphan diseases. However, effective diagnostics and therapies have not yet been developed for many other rare diseases. Moreover, their true prevalence remains unknown because these diseases often go undiagnosed. One of the problems in diagnosing rare diseases is the lack of knowledge among physicians.

The aim of this review is to provide a brief clinical and genetic description of rare hereditary lung diseases and to show modern genetic diagnostics to raise awareness among physicians. Data from 95 articles on hereditary lung diseases were used.

Results

Results. The results of the analysis of lung diseases associated with bronchiectasis, fibrosis, pneumothorax, and hereditary storage diseases are presented. Genetics and diagnostics, including the three-step molecular genetic testing for cystic fibrosis, are considered in detail. The diagnosis has been developed for both neonatal screening and clinical manifestations. The emergence of targeted therapy based on genetic diagnosis makes neonatal screening even more relevant and leads to an increase in life expectancy. A patient registry was established within 10 years. A detailed analysis of the diagnosis of primary ciliary dyskinesia (PCD) is given, taking into account the absence of a single “golden” standard for the diagnosis of PCD. The genetic basis of the most common hereditary diseases and modern possibilities of their diagnosis are discussed, including sequencing of genes responsible for the development of orphan diseases using standard Sanger sequencing methods and next-generation sequencing, and creating multigene panels.

Conclusion

Conclusion. New molecular diagnostic methods will help to understand the nature of orphan lung diseases, study their epidemiology, and develop new diagnostic algorithms. The study of the genetic causes of rare diseases may serve as a basis for the development of targeted therapy.

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