CLINICAL AND GENETIC, MICROBIOLOGICAL AND FUNCTIONAL CHARACTERISTICS OF MOSCOW AND MOSCOW REGION PATIENTS WITH CYSTIC FIBROSIS

The aim of this study was to assess different clinical and genetic, microbiological and functional features of patients with cystic fibrosis living in Moscow and Moscow region on the 31^st December, 2010. The mean age of the patients was 12,1±9,6 years (0,2–43,2), the median was 11,0 (16,0) years. Adult patients (older than 18 years) accounted for 30,6%. The diagnosis was established at the median age of — 1,0 (5,0) year; 3,8% of all the patients (12,4% of adults) were diagnosed during adulthood. The prevalence of the most common mutation in the world (F508del) was 52,96%, among adult patients it was mentioned a relatively high prevalence of «mild» genotypes. Among the microbiological structure of respiratory tract involvement a special interest has a high rate of Burkholderia cepacia complex infection (8,7%). A significant frequency increase of pneumothorax, haemoptysis, hypoxemic respiratory failure and diabetes mellitus with fasting hyperglycemia development were found, while the occurrence of hepatocirrhosis and portal hypertension is comparable between children and adult patients.

1. Cystic Fibrosis Foundation Patient Registry 2011. Ann. Data Report. Cystic Fibrosis Foundation, Bethesda, Md, USA. 2012. Available at: www.cff.org (accessed: 24 December 2012). 2. UK CF Registry. Ann. Data Report 2010. Cystic Fibrosis Trust 2012. Available at: www.cftrust.org.uk (accessed: 24 December 2012).

2. Canadian Cystic Fibrosis Patient Data Registry Report 2010. Available at: www.cysticfibrosis.ca (accessed: 24 December 2012).

3. Cystic fibrosis in Australia 2009. 12th Ann. Report from the Australian Cystic Fibrosis Data Registry. Available at: www.cysticfibrosisaustralia.org.au (accessed: 24 December 2012).

4. Cystic Fibrosis Registry of Ireland Annual Report 2010. Woodview House, University College Dublin Belfield, Dublin 4, Ireland. Available at: www.cfri.ie

5. French Cystic Fibrosis Registry. Ann. Data Report 2009. Available at: www.vaincrelamuco.org (accessed: 24 December 2012).

6. Krasovskii S.A., Chernyak A.V., Amelina E.L. etc. Survivability dynamics of mucoviscidosis patients in Moscow and the Moscow Region in 1992-2001 and 2002-2011. Pulmonology. 2012; 3: 79-86.

7. Asherova I.K., Kapranov N.I. Register as a means of improving quality of the medical care rendered to mucoviscidosis patients. Pediatric pharmacology. 2012; 3: 96-100.

8. Krasovskii S.A., Chernyak A.V., Amelina E.L. etc. Mucoviscidosis in adults: increase in survivability of patients in Moscow and the Moscow Region. Therapeutic archive. 2012; 3: 54-58.

9. Petrova N.V. Molekulyarno-geneticheskie i kliniko-geno-tipicheskie osobennosti mukovistsidoza v rossiiskikh populyatsiyakh. Avtoref. dis. … dokt. med. nauk [Molecular-Genetic and Clinical Genotypic Peculiarities of Mucoviscidosis in Russian Populations. Author’s abstract]. Мoscow, 2009. 42 p.

10. Golubtsova O.I., Krasovskii S.A., Kozhevnikova S.L., Kapranov N.I. Clinical peculiarities of respiratory system affection of children with mucoviscidosis in the Chuvash Republic. Vopr. sovr. pediatrii – Current pediatrics. 2012; 11(4): 54-59.

11. Shah P. L., Conway S., Scott S. F. et al. A case-controlled study with dornase alfa to evaluate impact on disease progression over a 4 year period. Respiration. 2001; 68: 160–164.

12. Hodson M. E., McKenzie S., Нarms H. K. et al. Dornase alfa in the treatment of cystic fibrosis in Europe: a report from the epidemiologic registry of cystic fibrosis. Pediatr. Pulmonol. 2003; 36 (5): 427–432.

13. Нarms H. K., Matouk E., Tournier G. et al. Multicenter, open-label study of recombinant human DNase in cystic fibrosis patients with moderate lung disease. Pediatr. Pulmonol. 1998; 26: 155–161.

14. Ramsey B. W., Astley S. J., Aitken M. L. et al. Efficacy and safety of short-term administration of aerosolized recombinant human deoxyribonuclease in patients with cystic fibrosis. Am. Rev. Respir. Dis. 1993; 148 (1): 145–151.

15. Нodson M. E. Aerosolized dornase alfa (rhDNase) for therapy of cystic fibrosis. Am. J. Respir. Crit. Care Med. 1995; 151: 70–74.

16. Fuchs H. J., Borowitz D. S., Christiansen D. H. et al. Effect of aerosolized recombinant human DNase on exacerbations of respiratory symptoms and on pulmonary function in patients with cystic fibrosis. N. Engl. J. Med. 1994; 331: 637–642.

17. George P. M., Bilton D., Hodson M. E. et al. Improved survival at low lung function in cystic fibrosis: cohort study from 1990 to 2007. BMJ. 2011; 342: 1008.