Clinical course of cystic fibrosis on adult patients carrying "mild" mutations
S. A. Krasovsky,
N. V. Petrova,
A. A. Stepanova,
M. V. Usacheva,
V. A. Samoilenko,
E. L. Amelina,
V. S. Nikonova
https://doi.org/10.18093/0869-0189-2012-0-6-5-11
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Abstract
Clinical course of cystic fibrosis on adult patients carrying "mild" mutations.
About the Authors
S. A. Krasovsky
ФГБУ "НИИ пульмонологии" ФМБА России
Russian Federation
Russian Federation
N. V. Petrova
ГУ "Медико-генетический научный центр РАМН"
Russian Federation
Russian Federation
A. A. Stepanova
ГУ "Медико-генетический научный центр РАМН"
Russian Federation
Russian Federation
M. V. Usacheva
ФГБУ "НИИ пульмонологии" ФМБА России
Russian Federation
Russian Federation
V. A. Samoilenko
ФГБУ "НИИ пульмонологии" ФМБА России
Russian Federation
Russian Federation
E. L. Amelina
ФГБУ "НИИ пульмонологии" ФМБА России
Russian Federation
Russian Federation
V. S. Nikonova
ГУ "Медико-генетический научный центр РАМН"
Russian Federation
Russian Federation
References
1. Kapranov N.I., Kashirskaya N.Yu. (red.). Mukovistsidoz. (Sovremennye dostizheniya i aktual'nye problemy): Metodicheskie rekomendatsii. 3-e izd. M.: OOO "4TE Art"; 2008.
2. Ivashchenko T.E., Baranov V.S. Molekulyarno-geneticheskie i biokhimicheskie osnovy patogeneza mukovistsidoza. SPb.: Intermedika; 2002.
3. http://www.genet.sickkids.on.ca/cftr
4. Castellani C., Cuppens H., Macek M. et al. Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice. J. Cyst. Fibros. 2008; 8: 179-196.
5. Krasovskii S.A., Petrova N.V., Nikonova V.S. i dr. Spektr mutatsii gena transmembrannogo regulyatora mukovistsidoza (SFTR) sredi bol'nykh Moskvy i Moskovskoi oblasti. V kn.: Sbornik materialov XIV Kongressa pediatrov Rossii s mezhdunarodnym uchastiem "Aktual'nye problemy pediatrii". Moskva, 24-27 fevralya 2012 g. M.; 2012: 384.
6. Kovaleva L.F. Osobennosti klinicheskogo techeniya mukovistsidoza u detei getero- i gomozigot po DELF508 po dannym tsentra mukovistsidoza Sankt-Peterburga: Avtoref. dis… kand. med. nauk. SPb.; 1997.
7. Zhelenina L.A. Mukovistsidoz u detei (kliniko-geneticheskie osobennosti, infektsionnyi protsess v legkikh, lechenie): Avtoref. dis. … d-ra med. nauk. SPb.; 1998.
8. Kashirskaya N.Yu. Sostoyanie zheludochno-kishechnogo trakta, podzheludochnoi zhelezy i gepatobiliarnoi sistemy u bol'nykh mukovistsidozom (osobennosti kliniki, diagnostiki, lecheniya i reabilitatsii): Avtoref. dis. … d-ra med. nauk. M.; 2001.
9. Petrova N.V. Molekulyarno-geneticheskie i kliniko-genotipicheskie osobennosti mukovistsidoza v rossiiskikh populyatsiyakh: Avtoref. dis. … d-ra med. nauk. M.; 2009.
10. Krasovskii S.A. Osteoporoz u vzroslykh bol'nykh mukovistsidozom: Avtoref. dis. … kand. med. nauk. M.; 2012.
11. Yankaskas J.R., Marshall B.C., Sufian B. et al. Cystic fibrosis adult care: consensus sonference report. Chest. 2004; 125: 11-39.
12. Zielenski J. Genotype and phenotype in cystic fibrosis. Respiration. 2000; 67 (2): 117-133.
13. Kerem B.S., Kerem E. The molecular basis for disease variability in cystic fibrosis. Eur. J. Hum. Genet. 1996; 4: 65-73.
14. Salvatore F., Scudiero O., Castaldo G. Genotype-phenotype correlation in cystic fibrosis: The role of modifier genes. Am. J. Med. Genet. 2002; 111: 88-95.
15. Parad R.B., Gerard C.J., Zuracowski D. et al. Pulmonary outcome in cystic fibrosis is influenced primarily by Pseudomonas aeruginosa infection and immune status and only modestly genotype. Infect. and Immun. 1999; 67 (9): 4744-4750.
16. 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.
17. Dugueperoux I., De Braekeleer M. The CFTR 3849+10kbC>T and 2789+5G>A alleles are associated with a mild CF phenotype. Eur. Respir. J. 2005; 25: 468-473.
18. Highsmith W.E., Burch L.H., Zhou Z. et al. A novel mutation in the cystic fibrosis gene in patients with pulmonary disease but normal sweat chloride concentrations. N. Engl. J. Med. 1994; 331: 974-980.
19. Gan K.H., Veeze H.J., Van Den Ouweland M.W. et al. A cystic fibrosis mutation associated with mild lung disease. N. Engl. J. Med. 1995; 333: 95-99.
20. McKone E.F., Goss S.N., Aitken M.L. CFTR genotype as a predictor of prognosis in cystic fibrosis. Chest. 2006; 130 (5): 1441-1447.
Review
For citations:
Krasovsky S.A., Petrova N.V., Stepanova A.A., Usacheva M.V., Samoilenko V.A., Amelina E.L., Nikonova V.S. Clinical course of cystic fibrosis on adult patients carrying "mild" mutations. PULMONOLOGIYA. 2012;(6):5-11. (In Russ.) https://doi.org/10.18093/0869-0189-2012-0-6-5-11
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ISSN 0869-0189 (Print)
ISSN 2541-9617 (Online)
ISSN 2541-9617 (Online)
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