• Main page
• About the journal
• Editorial board
• Subscription
• Information for contributors
• Editorial and Peer Review
• Issues archive
• Authors
• Articles
  • By alphabet
  • By category
• Blogs and comments

The journal is included into The list of leading scientific periodicals.

The journal is included into VINITI database and is registered in Electronic scientific library.

The journal is indexed by SCOPUS, Ulrich's International Periodicals Directory.

EBSCO

https://doi.org/10.14300/mnnc.2020.15040

Clinical and genetic characteristics of cystic fibrosis patients and a functional assessment of the work of the chloride channel with the first described pathogenic variant D579Y (с.1735G>T)

[Cystic fibrosis]
Elena Ivanovna Kondratieva; Julia Leonidovna Melyanovskaya; Nika Valentinovna Petrova; Rena Zinchenko; Sergey Kutsev;

The aim of the study was to describe the clinical picture of cystic fibrosis in carriers of the D579Y variant (c.1735G> T). According to the 2017 National Register of Cystic Fibrosis Patients of the Russian Federation, three patients from unrelated families were found to have the c.1735G>T variant, which was in the compound with the c.1521_1523delCTT variant (p.Phe508del). All patients had high levels of sweat test and severe clinical course of the disease. It was found that c.1735G>T belongs to the «severe» variants of the CFTR gene with no chlorine channel function.

Download

References:
1. Kapranov N. I., Kashirskaya N. Yu. Mukovistsidoz. M.: «MEDPRAKTIKA-M», 2014. (In Russ.).
2. Ivashchenko T. E.,Baranov V. S. Biokhimicheskiye i molekulyarno-geneticheskiye osnovy patogeneza mukovistsidoza. Spb.: Intermedika. 2002. (In Russ.).
3. Loubieres Y., Grenet D., Simon-Bouy B. [et al.]. Association between genetically determined pancreatic status and lung disease in adult cystic fibrosis patients. Chest. 2002;121:1:73-80.
4. Mishra A., Greaves R., Massie J. The relevance of sweat testing for the diagnosis of cystic fibrosis in the genomic era. Clin. Biochem. Rev. 2005;26:135-153.
5. Natsional’nyy konsensus «Mukovistsidoz: opredeleniye, diagnosticheskiye kriterii, terapiya» Koordinatory: Kondrat’yeva Ye. I., Kashirskaya N. Yu., Kapranov N. I., 2016. (In Russ.).
6. Strausbaugh S. D., Davis P. B. Cystic fibrosis: a review of epidemiology and pathobiology. Clin. Chest Med. 2007;28(2):279-288. https://doi.org/10.1016/j.ccm.2007.02.011
7. Kondratyeva E. I., Petrova N. V., Krasovsky S. A., Zinchenko R. A., Polyakov A. V. [et al.]. Characterization of mutations of patients with cystic fibrosis in the Russian Federation according to the register in 2017 and the possibility of targeted therapy. Voprosy prakticheskoy pediatrii. – Clinical Practice in Pediatrics. 2018;13:6:58-66. (In Russ.). https://doi.org/10.20953/1817-7646-2018-6-58-66
8. Cystic Fibrosis Mutation Database. Mutation Details for c.1083G>A. Available at: http://www.genet.sickkids.on.ca/MutationDetailPage.external?sp=2175. Accessed January 22, 2020.
9. Petrova N. V., Marakhonov A. Yu., Vasilieva T. A., Kashirskaya N. Yu., Kondratyeva E. I. [et al.]. Features of the spectrum of mutations identified in a comprehensive study of the CFTR gene in Russian patients with cystic fibrosis. Al’manakh klinicheskoy meditsiny. – Almanac of clinical medicine. 2019;47(1):38-46. (In Russ.). https://doi.org/10.18786/2072-0505-2019-47-004
10. Register of cystic fibrosis patients in the Russian Federation. 2017 year. Edited by Voronkova A. Yu., Amelina E. L., Kashirskaya N. Yu., Kondratyeva E. I., Krasovsky S. A. [et al.]. M.: MEDPRAKTIKA-M, 2019. (In Russ.).
11. The European Cystic Fibrosis Society Patient Registry. Available at: https://www.ecfs.eu/ecfspr. Accessed January 22, 2020.
12. Konsensus po klinicheskim effektam geneticheskikh variantov. Available at: http://seqdb.med-gen.ru. Accessed January 22, 2020. (In Russ.).
13. Derichs N., Sanz J., Von Kanel T., Stolpe C., Zapf A. [et al.]. Intestinal current measurement for diagnostic classification of patients with questionable cystic fibrosis: validation and reference data. Thorax. 2010.65:594-599. https://doi.org/10.1136/thx.2009.125088
14. Clancy J. P., Szczesniak R. D., Ashlock M. A., Ernst S. E., Fan L. [et al.]. Multicenter intestinal current measurements in rectal biopsies from CF and Non-CF subjects to monitor CFTR function. Plos One J. 2013;8(9)e73905.
15. Cystic Fibrosis Mutation Database. Mutation Details for c.1735G>T Available at: http://genet.sickkids.on.ca/MutationDetailPage.external?sp=303. Accessed January 22, 2020.
16. ClinVar Genomic variation as it relates to human health. Available at: https://www.ncbi.nlm.nih.gov/clinvar/variation/53363. Accessed January 22, 2020.
17. van Barneveld A., Stanke F., Ballmann M., Naim H. Y., Tümmler B. Ex vivo biochemical analysis of CFTR in human rectal biopsies. Bioch. Bioph. Acta. 2006;1762:393-397. https://doi.org/10.1016/j.bbadis.2006.01.007
18. Veeze H. J., Sinaasappel M., Bijman J., Bouquet J., de Jonge H. R. Ion transport abnormalities in rectal suction biopsies from children with cystic fibrosis. Gastroenterology. 1991;101:398-403.

Keywords: cystic fibrosis, intestinal current measurement, genetic variants, CFTR gene, CFTR protein