Abstract
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.
Highlights
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
Эти результаты подтверждают возможную роль дисморфогенеза соединительной ткани в формировании бронхоэктазов, кистозно-фиброзной дисплазии, спонтанных пневмотораксов, интерстициального пневмофиброза, фиброза/цирроза печени у данной категории детей [64]
Summary
The article considers the issue of cystic fibrosis – a monogenic autosomal recessive disease. Многочисленные исследования полиморфизма гена данного протеина показывают, что ген TGF β1 является модификатором функции легких у больных муковисцидозом [11, 12]; аллели -509C и аллели кодона 10 T ассоциированы с более высокими показателями вентиляционной функции легочной ткани [13, 14].
Sign-in/Register to view highlights & summary Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callMore From: Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)
Disclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
