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”10.21508/1027-4065-2018-63-5-20-28perinatology-718Research ArticleОБЗОР ЛИТЕРАТУРЫREVIEWSРОЛЬ ДИСПЛАЗИИ СОЕДИНИТЕЛЬНОЙ ТКАНИ В ТЕЧЕНИИ МУКОВИСЦИДОЗА У ДЕТЕЙ. КЛИНИКО-ГЕНЕТИЧЕСКИЕ АСПЕКТЫTHE ROLE OF CONNECTIVE TISSUE DYSPLASIA IN CHILDREN’S CYSTIC FIBROSIS. CLINICAL AND GENETIC ASPECTShttps://orcid.org/0000-0002-8302-1207ГоряиноваА. В.GoryainovaA. V.

врач-педиатр, гастроэнтеролог отделения педиатрии.

https://orcid.org/0000-0002-9567-6761ШумиловП. В.ShumilovP. V.

д.м.н., проф., зав. кафедрой госпитальной педиатрии имени академика В.А. Таболина РНИМУ им. Н.И. Пирогова; зам. гл. врача.

КаширскаяH. Ю.KashirskayaN. Yu.

д.м.н., проф., гл. научн. сотр. лаборатории генетической эпидемиологии.

115478 Москва, улица Москворечье, д.1.

СемыкинС. Ю.SemykinS. Yu.

к.м.н., зав. педиатрическим отделением.

119571 Москва, Ленинский проспект, д. 117.

Российская детская клиническая больница.РоссияRussian Children’s Clinical Hospital.Russian FederationФГБНУ «Медико-генетический научный центр».РоссияMedical Genetics Research Center.Russian Federation2018171120186352028Copyright © Ltd. “The National Academy of Pediatric Science and Innovation”, 20182018Ltd. “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/718

Рассмотрена проблема муковисцидоза – моногенного аутосомно-рецессивного заболевания. Представлена история открытия гена CFTR, дальнейшего поиска генов-модификаторов для объяснения вариабельности клинических проявлений муковисцидоза. Обсуждаются вопросы дисплазии соединительной ткани и соматической патологии, формирующейся в результате дисморфогенеза соединительной ткани у больных муковисцидозом, приводятся обоснования ассоциации между формированием тяжелого фиброза легких, печени и наличием клинико-генетических маркеров диплазии соединительной ткани. Высказано предположение о возможном влиянии клинических и генетических полиморфизмов соединительной ткани на течение муковисцидоза, формирование бронхоэктазов, интерстициального пневмофиброза, кистозно-фиброзной дисплазии, фиброза и цирроза печени.

The article considers the issue of cystic fibrosis – a monogenic autosomal recessive disease. It describes the history of the CFTR gene discovery, the further search for modifier genes to explain the variability of the clinical manifestations of cystic fibrosis. The review discusses problems of connective tissue dysplasia and somatic pathology, which is formed due to the connective tissue dysmorphogenesis in patients with cystic fibrosis; and also the article contains justification for the connection between the formation of severe fibrosis of the lungs and liver and the presence of clinical and genetic markers of connective tissue dysplasia. The author assumes that the clinical and genetic polymorphisms of connective tissue influence the course of cystic fibrosis, formation of bronchiectasis, interstitial pneumofibrosis, cystic fibrosis dysplasia, liver fibrosis and cirrhosis.

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