vspВопросы современной педиатрииCurrent Pediatrics1682-55271682-5535Издательство «ПедиатрЪ»10.15690/vsp.v13i2.971vsp-205Research ArticleОРИГИНАЛЬНЫЕ СТАТЬИORIGINAL ARTICLESВЛИЯНИЕ ВОЗРАСТА ПОСТАНОВКИ ДИАГНОЗА И НАЧАЛА СПЕЦИФИЧЕСКОЙ ТЕРАПИИ НА ОСНОВНЫЕ КЛИНИКО-ЛАБОРАТОРНЫЕ ПРОЯВЛЕНИЯ ЗАБОЛЕВАНИЯ У БОЛЬНЫХ МУКОВИСЦИДОЗОМINFLUENCE OF THE AGE OF THE DIAGNOSIS AND THE BEGINNING OF SPECIFIC THERAPY ON MAIN CLINICAL AND LABORATORY MANIFESTATIONS OF A DISEASE IN PATIENTS WITH CYSTIC FIBROSISКрасовскийС. А.KrasovskiiS. A.
Stanislav Krasovskiy, Candidate of Medical Science, research scientist of the mucoviscidosis laboratory
sa_krasovsky@mail.ruКаширскаяН. Ю.KashirskayaN. Yu.sa_krasovsky@mail.ruУсачёваМ. В.UsachevaM. V.sa_krasovsky@mail.ruАмелинаЕ. Л.AmelinaE. L.sa_krasovsky@mail.ruЧернякА. В.ChernyakA. V.sa_krasovsky@mail.ruНауменкоЖ. К.NaumenkoZh.K.sa_krasovsky@mail.ruНаучно-исследовательский институт пульмонологии, МоскваРоссияScientific Research Institute of Pulmonology, MoscowRussian FederationМедико-генетический научный центр, МоскваРоссияResearch Centre of Medical Genetics, MoscowRussian Federation201401042014132Вопросы современной педиатрии3643Copyright © Красовский С.А., Каширская Н.Ю., Усачёва М.В., Амелина Е.Л., Черняк А.В., Науменко Ж.К., 20142014Красовский С.А., Каширская Н.Ю., Усачёва М.В., Амелина Е.Л., Черняк А.В., Науменко Ж.К.Krasovskii S.A., Kashirskaya N.Y., Usacheva M.V., Amelina E.L., Chernyak A.V., Naumenko Z.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://vsp.spr-journal.ru/jour/article/view/205муковисцидоздиагнозвозраст«степень тяжести» генотипадорназа альфаcystic fibrosisdiagnosticsage«severity» of genotypedornase alfaReferencesMukovistsidoz. Sovremennyye dostizheniya i aktual'nyye problemy. Metodicheskiye rekomendatsii [Mucoviscidosis. Modern Achievements and Actual Problems. Methodical Recommendations]. The 4th ed., rev. and enl. Ed. Kapranov N. I., Kashirskaya N.Yu. М.: 4ТЕ Аrt. 2011. 124 p.Mukovistsidoz. Sovremennyye dostizheniya i aktual'nyye problemy. Metodicheskiye rekomendatsii [Mucoviscidosis. Modern Achievements and Actual Problems. Methodical Recommendations]. The 4th ed., rev. and enl. Ed. Kapranov N. I., Kashirskaya N.Yu. М.: 4ТЕ Аrt. 2011. 124 p.Krasovskiy S. A. Osteoporoz u vzroslykh bol'nykh mukovistsidozom [Osteoporosis in Adult Cystic Fibrosis Patients]. Synopsis of thesis for the degree of Candidate of Medical Science. М. 2012. 26 p.Krasovskiy S. A. Osteoporoz u vzroslykh bol'nykh mukovistsidozom [Osteoporosis in Adult Cystic Fibrosis Patients]. Synopsis of thesis for the degree of Candidate of Medical Science. М. 2012. 26 p.Schechter M. Variability of clinical course in cystic fibrosis. In: Cystic fibrosis. Third edn. M. Hodson, G. Duncan, A. Bush (eds). London: Edward Arnold (Publishers) Ltd. 2007. P. 87–95.Schechter M. Variability of clinical course in cystic fibrosis. In: Cystic fibrosis. Third edn. M. Hodson, G. Duncan, A. Bush (eds). London: Edward Arnold (Publishers) Ltd. 2007. P. 87–95.Doull I.J.M., Ryley H. C., Weller P. Cystic fibrosis-related deaths in infancy and the effect of newborn screening. Pediatr. Pulmonol. 2001; 31: 363–366.Doull I.J.M., Ryley H. C., Weller P. Cystic fibrosis-related deaths in infancy and the effect of newborn screening. Pediatr. Pulmonol. 2001; 31: 363–366.Cystic Fibrosis Foundation, Patient Registry 2012 Annual Report, Cystic Fibrosis Foundation. Bethesda, Md, USA. 2013. www.cff.orgCystic Fibrosis Foundation, Patient Registry 2012 Annual Report, Cystic Fibrosis Foundation. Bethesda, Md, USA. 2013. www.cff.orgKrasovskiy S. A., Amelina Ye. L., Chernyak A. V., Nikonova V. S., Voronkova A.Yu., Kashirskaya N.Yu., Kapranov N. I., Chistyakova V. P., Samoylenko V. A., Semykin S.Yu., Simonova O. I., Petrova N. V., Gorinova Yu. V., Chuchalin A. G. Terapevticheskii Arkhiv — Therapeutic Archive. 2012; 3: 54–58.Krasovskiy S. A., Amelina Ye. L., Chernyak A. V., Nikonova V. S., Voronkova A.Yu., Kashirskaya N.Yu., Kapranov N. I., Chistyakova V. P., Samoylenko V. A., Semykin S.Yu., Simonova O. I., Petrova N. V., Gorinova Yu. V., Chuchalin A. G. Terapevticheskii Arkhiv — Therapeutic Archive. 2012; 3: 54–58.Doring G., Hoiby N. Early intervention and prevention of lung disease in cystic fibrosis: a European consensus. For the Consensus Study Group. J. Cyst. Fibros. 2004; 3: 67–91. 8Doring G., Hoiby N. Early intervention and prevention of lung disease in cystic fibrosis: a European consensus. For the Consensus Study Group. J. Cyst. Fibros. 2004; 3: 67–91. 8. Farrell P., Shen G., Koscik R. E., Bruns W. T., Splaingard M., Mischler E. H. Nutritional benefits of neonatal screening for cystic fibrosis. N. Engl. J. Med. 1997; 337: 963–969.. Farrell P., Shen G., Koscik R. E., Bruns W. T., Splaingard M., Mischler E. H. Nutritional benefits of neonatal screening for cystic fibrosis. N. Engl. J. Med. 1997; 337: 963–969.Farrell P. M., Kosorok M. R., Rock M. J., Laxova A., Zeng L., Lai H. C., Hoffman G., Laessig R. H., Splaingard M. L. Early diagnosis of cystic fibrosis through neonatal screening prevents severe malnutrition and improves long-term growth. Wisconsin Cystic Fibrosis Neonatal Screening Study Group. Pediatrics. 2001; 107: 1–13.Farrell P. M., Kosorok M. R., Rock M. J., Laxova A., Zeng L., Lai H. C., Hoffman G., Laessig R. H., Splaingard M. L. Early diagnosis of cystic fibrosis through neonatal screening prevents severe malnutrition and improves long-term growth. Wisconsin Cystic Fibrosis Neonatal Screening Study Group. Pediatrics. 2001; 107: 1–13.Krasovskiy S. A. Nikonova V. S., Kashirskaya N.Yu., Kondrat'yeva Ye. I., Chernyak A. V., Kapranov N. I., Amelina Ye. L., Sherman V. D., Samoylenko V. A., Voronkova A.Yu., Shabalova L. A., Simonova O. I., Usacheva M. V., Chernikov V. V. Voprosi sovremennoi pediatrii — Current Pediatrics. 2013; 12 (1): 17–23.Krasovskiy S. A. Nikonova V. S., Kashirskaya N.Yu., Kondrat'yeva Ye. I., Chernyak A. V., Kapranov N. I., Amelina Ye. L., Sherman V. D., Samoylenko V. A., Voronkova A.Yu., Shabalova L. A., Simonova O. I., Usacheva M. V., Chernikov V. V. Voprosi sovremennoi pediatrii — Current Pediatrics. 2013; 12 (1): 17–23.Dijk F. N., McKay K., Barzi F., Gaskin K. J., Fitzgerald D. A. Improved survival in cystic fibrosis patients diagnosed by newborn screening compared to a historical cohort from the same centre. Arch. Dis. Child. 2011; 96 (12): 1118–1123.Dijk F. N., McKay K., Barzi F., Gaskin K. J., Fitzgerald D. A. Improved survival in cystic fibrosis patients diagnosed by newborn screening compared to a historical cohort from the same centre. Arch. Dis. Child. 2011; 96 (12): 1118–1123.Conway S. P., Brownlee K. G., Peckman D. G. Cystic fibrosis in children and adults. The Leeds method of management. Revised edn., number 7. St. James and Seacroft University Hospitals. Leeds Teaching Hospital Trust, Beckettstreet, Leeds, UK. 2008. P. 130–141.Conway S. P., Brownlee K. G., Peckman D. G. Cystic fibrosis in children and adults. The Leeds method of management. Revised edn., number 7. St. James and Seacroft University Hospitals. Leeds Teaching Hospital Trust, Beckettstreet, Leeds, UK. 2008. P. 130–141.Сastellani С., Cuppens H., Macek Jr., Cassiman J. J., Kerem E., Durie P., Tullis E., Assael B. M., Bombieri C., Brown A., Casals T., Claustres M., Cutting G. R., Dequeker E., Dodge J., Doull I., Farrell P., Ferec C., Girodon E., Johannesson M., Kerem B., Knowles M., Munck A., Pignatti P. F., Radojkovic D., Rizzotti P., Schwarz M., Stuhrmann M., Tzetis M., Zielenski J., Elborn J. S. Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice. J. Cyst. Fibros. 2008; 7: 179–186.Сastellani С., Cuppens H., Macek Jr., Cassiman J. J., Kerem E., Durie P., Tullis E., Assael B. M., Bombieri C., Brown A., Casals T., Claustres M., Cutting G. R., Dequeker E., Dodge J., Doull I., Farrell P., Ferec C., Girodon E., Johannesson M., Kerem B., Knowles M., Munck A., Pignatti P. F., Radojkovic D., Rizzotti P., Schwarz M., Stuhrmann M., Tzetis M., Zielenski J., Elborn J. S. Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice. J. Cyst. Fibros. 2008; 7: 179–186.Krasovskiy S. A., Amelina Ye. L., Chernyak A. V., Kashirskaya N. Yu., Nikonova V. S., Voronkova A.Yu., Kondrat'yeva Ye. I., Samoylenko V. A., Sherman V. D., Kapranov N. I., Usacheva M. V., Naumenko Zh. K., Gorinova Yu. V., Chuchalin A. G. Pul'monologija — Pulmonology. 2013; 2: 27–32.Krasovskiy S. A., Amelina Ye. L., Chernyak A. V., Kashirskaya N. Yu., Nikonova V. S., Voronkova A.Yu., Kondrat'yeva Ye. I., Samoylenko V. A., Sherman V. D., Kapranov N. I., Usacheva M. V., Naumenko Zh. K., Gorinova Yu. V., Chuchalin A. G. Pul'monologija — Pulmonology. 2013; 2: 27–32.Krasovskiy S. A., Petrova N. V., Stepanova A. A., Usacheva M. V., Samoylenko V. A., Amelina Ye. L., Nikonova V. S. Pul'monologija — Pulmonology. 2012; 6: 5–11.Krasovskiy S. A., Petrova N. V., Stepanova A. A., Usacheva M. V., Samoylenko V. A., Amelina Ye. L., Nikonova V. S. Pul'monologija — Pulmonology. 2012; 6: 5–11.Debray D., Kelly D., Houwen R., Strandvik B., Strandvik B., Colombo C. Best practice guidance for the diagnosis and management of cystic fibrosis-associated liver disease. J. Cyst. Fibros. 2011; 10 (Suppl. 2): 29–36.Debray D., Kelly D., Houwen R., Strandvik B., Strandvik B., Colombo C. Best practice guidance for the diagnosis and management of cystic fibrosis-associated liver disease. J. Cyst. Fibros. 2011; 10 (Suppl. 2): 29–36.Boyce J. M., Pittet D. Guideline for Hand Hygiene in Health-Care Settings. Recommendations of the Healthcare Infection Control Practices Advisory Committee and the HICPAC/SHEA/APIC/IDSA Hand Hygiene Task Force. Society for Healthcare Epidemiology of America/Association for Professionals in Infection Control/Infectious Diseases Society of America. MMWR Recomm. Rep. 2002; 51: 1–45.Boyce J. M., Pittet D. Guideline for Hand Hygiene in Health-Care Settings. Recommendations of the Healthcare Infection Control Practices Advisory Committee and the HICPAC/SHEA/APIC/IDSA Hand Hygiene Task Force. Society for Healthcare Epidemiology of America/Association for Professionals in Infection Control/Infectious Diseases Society of America. MMWR Recomm. Rep. 2002; 51: 1–45.Quan J. M., Tiddens H. A. W.M., Sy J. P., McKenzie S. G., Montgomery M. D., Robinson P. J., Wohl M. E., Konstan M. W. A two-year randomized, placebo-controlled trial of dornasealfa in patients with cystic fibrosis and mild lung function abnormalities. J. Pediatr. 2001; 139: 813–820.Quan J. M., Tiddens H. A. W.M., Sy J. P., McKenzie S. G., Montgomery M. D., Robinson P. J., Wohl M. E., Konstan M. W. A two-year randomized, placebo-controlled trial of dornasealfa in patients with cystic fibrosis and mild lung function abnormalities. J. Pediatr. 2001; 139: 813–820.Shah P. L., Conway S., Scott S. F., Rainisio M., Wildman M., Stableforth D., Hodson M. E. A case-controlled study with dornase alfa to evaluate impact on disease progression over a 4 year period. Respiration. 2001; 68: 160–164.Shah P. L., Conway S., Scott S. F., Rainisio M., Wildman M., Stableforth D., Hodson M. E. A case-controlled study with dornase alfa to evaluate impact on disease progression over a 4 year period. Respiration. 2001; 68: 160–164.Hodson M. E., McKenzie S., Нarms H. K., Koch C., Mastella G., Navarro J., Strandvik B. 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.Hodson M. E., McKenzie S., Нarms H. K., Koch C., Mastella G., Navarro J., Strandvik B. 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.Hodson M. E., Shah P. L. DNase trials in cystic fibrosis. Eur. Respir. J. 1995; 8: 1786–1791.Hodson M. E., Shah P. L. DNase trials in cystic fibrosis. Eur. Respir. J. 1995; 8: 1786–1791.Нarms H. K., Matouk E., Tournier G., von der Hardt H., Weller P. H., Romano L., Heijerman H. G., FitzGerald M. X., Richard D., Strandvik B., Kolbe J., Kraemer R., Michalsen H. Multicenter, open-label study of recombinant human DNase in cystic fibrosis patients with moderate lung disease. Pediatr. Pulmonol. 1998; 26: 155–161.Нarms H. K., Matouk E., Tournier G., von der Hardt H., Weller P. H., Romano L., Heijerman H. G., FitzGerald M. X., Richard D., Strandvik B., Kolbe J., Kraemer R., Michalsen H. Multicenter, open-label study of recombinant human DNase in cystic fibrosis patients with moderate lung disease. Pediatr. Pulmonol. 1998; 26: 155–161.Shah P. L., Bush A., Canny G. J., Colin A. A., Fuchs H. J., Geddes D. M., Johnson C. A.C., Light M. C., Scott S. F., Tullis D. E., De Vault A., Wohl M. E., Hodson M. E. 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; 8: 954–958.Shah P. L., Bush A., Canny G. J., Colin A. A., Fuchs H. J., Geddes D. M., Johnson C. A.C., Light M. C., Scott S. F., Tullis D. E., De Vault A., Wohl M. E., Hodson M. E. 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; 8: 954–958.McKenzie S. G., Chowdhury S., Strandvik B., Hodson M. E. Dornase-alfa is well tolerated: data from the epidemiologic registry of cystic fibrosis. Pediatr. Pulmonol. 2007; 42 (10): 928–937.McKenzie S. G., Chowdhury S., Strandvik B., Hodson M. E. Dornase-alfa is well tolerated: data from the epidemiologic registry of cystic fibrosis. Pediatr. Pulmonol. 2007; 42 (10): 928–937.George P. M., Bilton D., Hodson M. E., Bilton D., Cullinan P., Hodson M. E., Simmonds N. J. Improved survival at low lung function in cystic fibrosis: cohort study from 1990 to 2007. BMJ. 2011; 342: 1008.George P. M., Bilton D., Hodson M. E., Bilton D., Cullinan P., Hodson M. E., Simmonds N. J. Improved survival at low lung function in cystic fibrosis: cohort study from 1990 to 2007. BMJ. 2011; 342: 1008.
The authors declare that there are no conflicts of interest present.