Abstract
В статье представлены сведения о медикаментозном управлении продукцией антимикробных пептидов при муковисцидозе у детей. Приведены данные о типах и классах мутаций гена трансмембранного регуляторного протеина муковисцидоза (CFTR) и их ассоциации с клиническими особенностями кистозного фиброза. Представлено значение антимикробных пептидов в хроническом инфекционно-воспалительном процессе органов дыхания при муковисцидозе. Продемонстрированы молекулярные механизмы влияния витамина D на экспрессию антимикробных пептидов в респираторном тракте при муковисцидозе, а также проанализированы новые возможности применения витамина D в терапии детей с данным заболеванием.
Highlights
Сystic fibrosis is the most common autosomal recessive lethal hereditary disease with the multiple organ manifestation [5; 7; 23]
Association of the specific CFTR mutation with the disease severity depends on the mutation type, its position inside the gene and influence on the structure and function of transmembrane regulatory protein cystic fibrosis [24; 32]
Pathologic changes in cystic fibrosis of all the excretory glands are caused by the failure of transportation process of chlorides through the membranes of epithelial cells
Summary
Сystic fibrosis is the most common autosomal recessive lethal hereditary disease with the multiple organ manifestation [5; 7; 23]. According to the CFTR Consortium data 2014, there are 1 995 various CFTR gene mutations, in 177 of cases clinical manifestations of cystic fibrosis develop [32]. Clinical peculiarities of cystic fibrosis, associated with the CFTR gene mutation type. Association of the specific CFTR mutation with the disease severity depends on the mutation type, its position inside the gene and influence on the structure and function of transmembrane regulatory protein cystic fibrosis [24; 32].
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