Open AccessТargeted therapy for CF patients with F508del/F508del genotype
Author(s) -
Е. Л. Амелина,
С. А. Красовский,
Г. Л. Шумкова,
Н. А. Крылова
Publication year - 2019
Publication title -
pulʹmonologiâ
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.126
H-Index - 6
eISSN - 2541-9617
pISSN - 0869-0189
DOI - 10.18093/0869-0189-2019-29-2-235-238
Subject(s) - ivacaftor , cystic fibrosis , genotype , medicine , cystic fibrosis transmembrane conductance regulator , combination therapy , gastroenterology , genetics , biology , gene
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.