perinatologyРоссийский вестник перинатологии и педиатрииRossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)1027-40652500-2228Ltd. “The National Academy of Pediatric Science and Innovation”10.21508/1027-4065-2021-66-1-22-30perinatology-1334Research ArticleОБЗОРЫ ЛИТЕРАТУРЫLITERATURE REVIEWSГено-фенотипическая характеристика синдрома Элерса–Данло, трудности идентификации типов заболевания и подходы к патогенетическому лечениюGeno-phenotypic characteristics of Ehlers–Danlos syndrome: difficulties of disease type identification and approaches to pathogenetic treatmenthttps://orcid.org/0000-0001-7146-7220НиколаеваЕ. А.NikolaevaE. A.

Николаева Екатерина Александровна – доктор медицинских наук, руководитель отдела клинической генетики 

Москва

Moscow

enikolaeva@pedklin.ruhttps://orcid.org/0000-0002-4026-3791СемячкинаА. Н.SemyachkinaA. N.

Семячкина Алла Николаевна – доктор медицинских наук, главный научный сотрудник отдела клинической генетики 

Москва

Moscow

asemyachkina@pedklin.ruОСП «Научно-исследовательский клинический институт педиатрии им. академика Ю.Е. Вельтищева» ФГАОУ ВО РНИМУ им. Н.И. Пирогова Минздрава РоссииРоссияAcademician Y.E. Veltishchev Research Clinical Institute of Pediatrics, Pirogov Russian National UniversityRussian Federation2021290320216612230Copyright © Ltd. “The National Academy of Pediatric Science and Innovation”, 20212021Ltd. “The National Academy of Pediatric Science and Innovation”Ltd. “The National Academy of Pediatric Science and Innovation”https://www.ped-perinatology.ru/jour/about/submissions#copyrightNoticehttps://www.ped-perinatology.ru/jour/article/view/1334

Представлены полученные из литературы современные сведения о наиболее распространенном моногенном заболевании соединительной ткани – синдроме Элерса–Данло. Дана информация о двух предшествующих классификациях синдрома: Берлинской (1988 г.), выделяющей 11 типов заболевания, и Бейтона (1998 г.), рассматривающей 6 типов синдрома и учитывающей результаты молекулярно-генетических исследований.

Особое внимание уделено новой классификации 2017 г., предложенной Международным консорциумом. Эта классификация базируется на клинических и молекулярно-генетических данных, включает 13 типов синдрома Элерса–Данло, входящих в 7 групп (A–G), в зависимости от основного молекулярного дефекта, определяющего нарушения различных структур коллагена (первичной, пространственной, образования поперечных связей) и других составляющих соединительной ткани (миоматрикса, гликозаминогликанов, компонента комплемента и др.). Представлены общие клинические симптомы для всех типов болезни и исчерпывающая информация о специфических признаках каждого из 13 типов синдрома.

Обсуждаются подходы к патогенетической терапии синдрома, анализируются возможности симптоматического лечения, включающего как лекарственные препараты разного спектра действия, так и физиотерапевтические мероприятия, ЛФК. Комплекс перечисленных лечебных мер направлен на стабилизацию основного патологического процесса, предупреждение осложнений, повышение качества жизни больного и улучшение социальной адаптации. Подчеркивается, что для правильного ведения пациентов, целенаправленного медицинского наблюдения и медико-генетического консультирования необходима молекулярно-генетическая верификация диагноза.

Veltischev Researchand Clinical Institutefor Pediatricsofthe Pirogov Russian National Research Medical University, Moscow, Russia The article presents modern data on the most common monogenic connective tissue disease – Ehlers–Danlos syndrome. The authors describe two previous classifications of the syndrome: Berlin (1988) classification, which distinguishes 11 types of the disease, and Beyton (1998) classification, which includes 6 types of the syndrome and takes into account the results of molecular genetic studies. Particular attention is paid to a new classification, proposed by the International Consortium in 2017. This classification is based on the clinical and molecular genetic data and unites 13 types of Ehlers–Danlos syndrome, divided in 7 groups (A–G), depending on the main molecular defect. This defect determines the violation of various collagen structures (primary, spatial, cross-linking) and others constituents of the connective tissue (myomatrix, glycosaminoglycans, complement component, etc.). The classification provides general clinical symptoms for all types of the disease and comprehensive information on the specific signs of each of the 13 types of the syndrome.

The authors discuss approaches to the pathogenetic therapy of the syndrome, the possibilities of symptomatic treatment, including both medications of different spectrum of action, and physiotherapeutic measures, exercise therapy. The complex of the listed therapeutic measures is aimed at stabilizing the main pathological process, preventing complications, improving the patient’s quality of life and social adaptation. The authors emphasize that correct patient management, targeted medical supervision and medical genetic counseling requires molecular genetic verification of the diagnosis.

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