Issue №3-85, 2018

The Role of Connective Tissue Dysplasia in Cystic Fibrosis-Associated Liver Cirrhosis in Children. Clinical and Genetic Aspects

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1 Goryainova A.V., 1 Shumilov P.V., 2 Baranova E.E., 3 Zobkova G.Yu., 1 Semykin S.Yu., 3 Donnikov A.E.

1 Russian Children's Clinical Hospital named after N.I. Pirogov, Russian Ministry of Health, Russia, Moscow
2 FGBOU DPO RMANPO of the Ministry of Health of the Russia, Moscow
3 Laboratory of Molecular Genetic Methods, Russian Federation, Moscow, Scientific Center of Obstetrics, Gynecology and Perinatology named after V.I. Kulakov, Russia, Moscow


ABSTRACT

Abstract: Cystic fibrosis - one of the most common monogenic diseases in the world, is inherited by an autosomalrecessive type and is caused by mutations in the CFTR gene, the product of which is a cAMP-dependent chlorine channel.By now, there are more than 2,000 mutations in this gene that are divided into classes depending on protein damage,highlighting "heavy" and "soft" mutations in their effect on the severity of exocrine pancreatic insufficiency. However, thereis still no clear association between the genotype and the clinical manifestation of cystic fibrosis, such as hepato-biliarypathology, in particular cirrhosis. In connection with this, the purpose of this study was to study the clinical and geneticfeatures of connective tissue dysplasia syndrome in children with cystic fibrosis, to assess the possible modifying effect ofpolymorphisms of connective tissue genes on the development of fibrosis / cirrhosis in cystic fibrosis. The study included188 children from 3 to 17 years (median 10 years) with a diagnosis of cystic fibrosis. A statistically significant association ofMMP3 polymorphisms and severe clinical manifestations on the part of the hepato-biliary system (classification of СhayldPew) was revealed.


KEYWORDS: cystic fibrosis, children, connective tissue dysplasia, hepato-biliary pathology, liver cirrhosis, polymorphisms, metalloproteinases



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