Тargeted therapy for CF patients with F508del/F508del genotype
https://doi.org/10.18093/0869-0189-2019-29-2-235-238
Abstract
Targeted therapy for cystic fibrosis (CF) is a novel approach to CF treatment that can restore and potentiate CFTR channel activity. Lumacaftor/ivacaftor combination therapy is related to significant clinical and functional benefits in CF patients who are homozygous for F508del CFTR mutation. The authors described a case of effective treatment with lumacaftor/ivacaftor combination in a homozygous F508del CF patient with severe lung disease. This experience demonstrates an urgent need to make this pathogenic treatment available for patients with this genotype in Russia.
About the Authors
Elena L. Amelina
Federal Pulmonology Research Institute, Federal Medical and Biological Agency of Russia
Russian Federation
Russian Federation
Elena L. Amelina, Candidate of Medicine, Head of Laboratory of Cystic Fibrosis, Federal Pulmonology Research Institute, Federal Medical and Biological Agency of Russia; tel.: (926) 205-03-91;
Orekhovyy bul'var 28, Moscow, 115682
Stanislav A. Krasovskiy
Federal Pulmonology Research Institute, Federal Medical and Biological Agency of Russia
Russian Federation
Russian Federation
Stanislav A. Krasovskiy, Candidate of Medicine, Senior Researcher, Laboratory of Cystic Fibrosis, Federal Pulmonology Research Institute, Federal Medical and Biological Agency of Russia; tel.: (495) 965-23-24;
Orekhovyy bul'var 28, Moscow, 115682
Galina L. Shumkova
Federal Pulmonology Research Institute, Federal Medical and Biological Agency of Russia
Russian Federation
Russian Federation
Galina L. Shumkova, Researcher, Center of Cystic Fibrosis, Federal Pulmonology Research Institute, Federal Medical and Biological Agency of Russia; tel.: (499) 248-55-38;
Orekhovyy bul'var 28, Moscow, 115682
Natal’ya A. Krylova
Federal Pulmonology Research Institute, Federal Medical and Biological Agency of Russia
Russian Federation
Russian Federation
Natal’ya A. Krylova, Researcher, Laboratory of Cystic Fibrosis, Federal Pulmonology Research Institute, Federal Medical and Biological Agency of Russia; tel.: (495) 965-23-24;
Orekhovyy bul'var 28, Moscow, 115682
References
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Review
For citations:
Amelina E.L., Krasovskiy S.A., Shumkova G.L., Krylova N.A. Тargeted therapy for CF patients with F508del/F508del genotype. PULMONOLOGIYA. 2019;29(2):235-238. (In Russ.) https://doi.org/10.18093/0869-0189-2019-29-2-235-238
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