Pathogenic treatment of cystic fibrosis: the first clinical case in Russia
https://doi.org/10.18093/0869-0189-2017-27-2-298-301
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.
About the Authors
E. L. AmelinaRussian Federation
Elena L. Amelina, Candidate of Medicine, Head of Laboratory of Cystic Fibrosis
Odinnadtsataya Parkovaya ul. 32, build. 4, Moscow, 105077
S. A. Krasovskiy
Russian Federation
Stanislav A. Krasovskiy, Candidate of Medicine, Senior Researcher at Laboratory of Cystic Fibrosis
Odinnadtsataya Parkovaya ul. 32, build. 4, Moscow, 105077
M. V. Usacheva
Russian Federation
Mariya V. Usacheva, Researcher at Laboratory of Cystic Fibrosis
Odinnadtsataya Parkovaya ul. 32, build. 4, Moscow, 105077
N. A. Krylova
Russian Federation
Natal'ya А. Krylova, Researcher at Laboratory of Cystic Fibrosis
Odinnadtsataya Parkovaya ul. 32, build. 4, Moscow, 105077
References
1. Ivashchenko T.E., Baranov V.S. Biochemical and Molecular Pathogenesis of Cystic Fibrosis. Saint-Petersburg: Intermedika; 2002 (in Russian).
2. Tsui L.C., Buchwald M. Biochemical and molecular genetics of cystic fibrosis. Adv. Hum. Genet. 1991; 20: 153–266. DOI: 10.1007/978-1-4684-5958-6-4.
3. Riordan J.R., Rommens J.M., Kerem B.T. et al. Identification of the cystic fibrosis gene: Cloning and characterization of complementary DNA. Science. 1989; 245 (4922): 1066–1073. DOI: 10.1126/science.2475911.
4. Griesenbach U., Geddes D.M., Alton E.W. Gene therapy for cystic fibrosis: an example for lung gene therapy. Gene Ther. 2004; 11 (Suppl. 1): S43–50. DOI: 10.1038/sj.gt.3302368.
5. Bell S.C., De Boeck K., Amaral M.D. New pharmacological approaches for cystic fibrosis: promises, progress, pitfalls. Pharmacol. Ther. 2015; 145: 19–34. DOI: 10.1016/j.pharmthera.2014.06.005.
6. Solomon G.M., Marshall S.G., Ramsey B. W. et al. Breakthrough Therapies: Cystic. Fibrosis (CF) Potentiators and Correctors. Pediatr. Pulmonol. 2015; 50 (Suppl. 40): S3–S13. DOI: 10.1002/ppul.23240.
Review
For citations:
Amelina E.L., Krasovskiy S.A., Usacheva M.V., Krylova N.A. Pathogenic treatment of cystic fibrosis: the first clinical case in Russia. PULMONOLOGIYA. 2017;27(2):298-301. (In Russ.) https://doi.org/10.18093/0869-0189-2017-27-2-298-301