CLINICAL CHARACTERISTICS OF RESPIRATORY INVOLVEMENT IN CHILDREN WITH CYSTIC FIBROSIS IN THE CHUVASH REPUBLIC
https://doi.org/10.15690/vsp.v11i4.359
Abstract
Cystic fibrosis is a common hereditary disease, characterized by multiple organ dysfunction, including early and severe involvement of respiratory system. The disease is caused by CFTR (cystic fibrosis transmembrane conductance regulator) gene mutation. Respiratory tract involvement is a main factor, predicting outcome, mortality, life quality and morbidity of patients. Genetic examination of Chuvash children demonstrated, that 53,5% of patients’ chromosomes are carriers of E92K mutation. According to genetic epidemiology of cystic fibrosis, Chuvash ethnic group is unique, as the prevalence of mutation E92K in it is almost twice higher than the most common and «severe» mutation in the world — F508del. The significant predominance of E92K determined the clinical presentation of cystic fibrosis in the examined group, because this mutation refers as «mild». The critical moment in treatment of this disorder is influence on sputum viscosity. Dornase alpha proved itself as an effective drug, which advantages among other agents, improving sputum rheological properties, are caused not only by unique mucolytic effect, but also anti-inflammatory and antibacterial actions.
About the Authors
O. I. Golubtsova
Chuvash State University name of I.N. Ulyanov, Cheboksary
Russian Federation
Ol’ga Golubtsova, Candidate of Medical Science, assistant of chair of pediatrics of the Chuvash State University named after I.N. Ul’yanov, head of pulmonology department of Budgetary Institution “Republican Children’s Clinical Hospital” of the Ministry of Health and Social Development of the Chuvash Republic
Russian Federation
Ol’ga Golubtsova, Candidate of Medical Science, assistant of chair of pediatrics of the Chuvash State University named after I.N. Ul’yanov, head of pulmonology department of Budgetary Institution “Republican Children’s Clinical Hospital” of the Ministry of Health and Social Development of the Chuvash Republic
S. A. Krasovskiy
Chuvash State University name of I.N. Ulyanov, Cheboksary
Russian Federation
Russian Federation
S. L. Kozhevnikova
Chuvash State University name of I.N. Ulyanov, Cheboksary
Russian Federation
Russian Federation
N. I. Kapranov
Chuvash State University name of I.N. Ulyanov, Cheboksary
Russian Federation
Russian Federation
References
1. Муковисцидоз (современные достижения и актуальные проблемы). Методические рекомендации. Изд. 3-е (1-е — 2001), пер. и доп. / под ред. Н. И. Капранова, Н. Ю. Каширской. М.: ООО «4ТЕ Арт». 2008. 123 с.
2. Петрова Н. В. Молекулярно-генетические и клинико-генотипические особенности муковисцидоза в российских популяциях. Автореф. … дис. докт. мед. наук. М. 2009. 42 с.
3. Сastellani С., Cuppens H., Macek Jr. et al. Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice. J. Cyst. Fibr. 2008; 7: 179–196.
4. Иващенко Т. Э., Баранов В. С. Биохимические и молекулярно-генетические основы патогенеза муковисцидоза. С.-Пб.: Интермедика. 2002. 256 с.
5. Robinson P. J. Dornase alfa in early cystic fibrosis lung disease. Pediatr. Pulmonol. 2002; 34: 237–241.
6. Quan J. M., Tiddens H. A. W. M., Sy J. P. et al. A two-year randomized, placebo-controlled trial of dornase alfa in patients with cystic fibrosis and mild lung function abnormalities. J. Pediatr. 2001; 139: 813–820.
7. 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.
8. 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.
9. Hodson M. E., Shah P. L. Dnase trials in cystic fibrosis. Eur. Respir. J. 1995; 8: 1786–1791.
10. 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.
11. Shah P. L., Bush A., Canny G. J. et al. Recombinant human DNase I in cystic fibrosis patients with severe pulmonary disease: a short-term, double-blind study followed by six months open-label treatment. Eur. Respir. J. 1995; 954–958.
12. McCoy K., Hamilton S., Johnson C. Effects of 12-week administration of dornase alfa in patients with advanced cystic fibrosis lung disease. Chest. 1996; 110: 889–895.
13. McKenzie S. G., Chowdhury S., Strandvik B. et al. Dornase alfa is well tolerated: data from the epidemiologic registry of cystic fibrosis. Pediatr. Pulmonol. 2007; 42 (10): 928–937.
14. Красовский С. А., Черняк А. В., Амелина Е. Л. и др. Динамика выживаемости больных муковисцидозом в Москве и Московской области за периоды 1992–2001 и 2002–2011 гг. Пульмонология. 2012; 3: 79–86.
15. 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: d1008 doi:10.1136/bmj.d1008.
Review
For citations:
Golubtsova O.I., Krasovskiy S.A., Kozhevnikova S.L., Kapranov N.I. CLINICAL CHARACTERISTICS OF RESPIRATORY INVOLVEMENT IN CHILDREN WITH CYSTIC FIBROSIS IN THE CHUVASH REPUBLIC. Current Pediatrics. 2012;11(4):54-59. (In Russ.) https://doi.org/10.15690/vsp.v11i4.359
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