Pathogenic treatment of cystic fibrosis: the first clinical case in Russia

Abstract

Start of the CFTR modulating therapy is an important and promising step towards better treatments for all cystic fibrosis (CF) patients. Therapy with CFTR potentiator Ivacaftor resulted in dramatic improvements in CFTR function in patients with G551D mutation, later it was prescribed for patients with another 9 gating mutations. We present a case of successful treatment of a CF patient with G461E/N1303К genotype. We have suggested that due to gating mutation G461E, the patient may profit from the treatment with ivacaftor. After six months of treatment, sweat chlorides concentration decreased from 93 mmol/l to normal 50 mmol/l, respiratory function (FEV1) increased from1.44 L(48%pred) to2.0 L(67%pred). The clinical course of the disease has changed significantly. The patient became stable; symptoms of chronic bronchitis diminished. There are other gating mutations in the Russian National Registry that may profit from treatment with ivacaftor.