Late diagnosis defines a unique population of long-term survivors of cystic fibrosis

American Journal of Respiratory and Critical Care Medicine

Volumn 171, Issue 6, 2005, Pages 621-626

  Rodman, David M ^a   Polis, Jillian M ^b   Heltshe, Sonya L ^b   Sontag, Marci K ^b   Chacon, Cathy ^b   Rodman, Rachel V ^b   Brayshaw, Sara J ^b   Huitt, Gwen A ^b   Iseman, Michael D ^b   Saavedra, Milene T ^b   Taussig, Lynn M ^b   Wagener, Jeffrey S ^b   Accurso, Frank J ^b   Nick, Jerry A ^b  

^a UNIVERSITY OF COLORADO   (United States)

^b NONE

Author keywords

Genotype; Lung; Mutation; Non tuberculous mycobacteria; Pseudomonas aeruginosa; Sweat chloride

Indexed keywords

ADULT; AGED; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; CYSTIC FIBROSIS; DIABETES MELLITUS; EARLY DIAGNOSIS; FEMALE; GENOTYPE PHENOTYPE CORRELATION; GRAM NEGATIVE INFECTION; HOMOZYGOSITY; HUMAN; LUNG FUNCTION; MALE; MYCOBACTERIOSIS; PANCREAS INSUFFICIENCY; PRIORITY JOURNAL; PSEUDOMONAS AERUGINOSA; SEX RATIO; SURVIVAL RATE; SURVIVAL TIME;

CASE-CONTROL STUDIES; CHILD, PRESCHOOL; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; EARLY DIAGNOSIS; EXOCRINE PANCREATIC INSUFFICIENCY; FEMALE; GENOTYPE; HUMANS; MALE; MIDDLE AGED; PSEUDOMONAS AERUGINOSA; PSEUDOMONAS INFECTIONS; RETROSPECTIVE STUDIES; SPUTUM; SURVIVAL ANALYSIS; TIME FACTORS;

EID: 20144385873     PISSN: 1073449X     EISSN: None     Source Type: Journal    
DOI: 10.1164/rccm.200403-404OC     Document Type: Article

References (43)

1. Rosenstein BJ, Zeitlin PL. Cystic fibrosis. Lancet 1998;351:277-282.
2. Morrissey BM, Schock BC, Marelich GP, Cross CE. Cystic fibrosis in adults: current and future management strategies. Clin Rev Allergy Immunol 2003;25:275-287.
3. Cystic Fibrosis Foundation. Patient registry 2003 annual data report. Bethesda. MD: Cystic Fibrosis Foundation; 2004.
4. Boyle MP. Nonclassic cystic fibrosis and CFTR-related diseases. Curr Opin Pulm Med 2003;9:498-503.
5. Highsmith WE, Overbeek SE, Hilvering C. A novel mutation in the CF gene in patients with pulmonary disease but normal sweat chloride concentrations. N Engl J Med 1994;331:974-980.
6. Mickle JE, Cutting GR. Genotype-phenotype relationships in cystic fibrosis. Med Clin North Am 2000;84:597-607.
7. Burke W, Aitken M, Chen SH, Scott CR. Variable severity of pulmonary disease in adults with identical cystic fibrosis mutations. Chest 1992;102:506-509.
8. Sanders JS, Pryor TD, Wedel MK. Prolonged survival in an adult with cystic fibrosis. Chest 1980;77:226-227.
9. Fiel S. Cystic Fibrosis in an adult. Emerg Med 1988;20:109-121.
10. Hunt B, Geddes D. Newly diagnosed CF in middle and later life. Thorax 1984;40:23-26.
11. Su C, Beanblossom B. Typical CF in an elderly woman. Am J Med 1989;86:701-703.
12. McCloskey M, Redmond AO, Hill A, Elborn JS. Clinical features associated with a delayed diagnosis of cystic fibrosis. Respiration (Herrlisheim) 2000;67:402-407.
13. Gan KH, Geus WP, Bakker W, Cornells CBHW, Heijerman HGM. Genetic and clinical features of patients with cystic fibrosis diagnosed after the age of 16 years. Thorax 1995;50:1301-1304.
14. Widerman E, Millner L, Sexauer W, Fiel S. Health status and sociodemographic characteristics of adults receiving a CF diagnosis after age 18 years. Chest 2000;118:427-433.
15. Wallick K, Sontag M, Jones M, Brayshaw S, Accurso F, Rodman D, Nick J. Clinical characteristics of adult patients over age 40 with CF: significance of early and delayed diagnosis. Paediatr Pulm 2002;324:319.
16. Rosenstein BJ, Cutting GR. The diagnosis of cystic fibrosis: a consensus statement. Cystic Fibrosis Foundation consensus panel. J Pediatr 1998;132:589-595.
17. Smith EP, Pontasch KW, Cains J Jr. Community-similarity and the analysis of multispecies environmental data: a unified statistical approach. Water Res 1990;24:507-514.
18. Wallace RJ, Glassroth J, Griffith DE, Olivier KN, Cook JL, Gordin F. Diagnosis and treatment of disease caused by nontuberculous mycobacteria. Am J Respir Crit Care Med 1997;156:S1-S25.
19. Bonforte RJ. Variability in cystic fibrosis. JAMA 1978;240:1855.
20. Lai HJ, Cheng Y, Cho H, Kosorok MR, Farrell PM. Association between initial disease presentation, lung disease outcomes, and survival in patients with cystic fibrosis. Am J Epidemiol 2004;159:537-546.
21. Feldmann D, Couderc R, Audrezet MP, Ferec C, Bienvenu T, Desgeorges M, Claustres M, Mittre H, Blayau M, Bozon D, et al. CFTR geno-types in patients with normal or borderline sweat chloride levels. Hum Mutat 2003;22:340.
22. Groman JD, Meyer ME, Wilmott RW, Zeitlin PL, Cutting GR. Variant cystic fibrosis phenotypes in the absence of CFTR mutations. N Engl J Med 2002;347:401-407.
23. Choo-Kang LR, Zeitlin PL. Type I, II, III, IV, and V cystic fibrosis transmembrane conductance regulator defects and opportunities for therapy. Curr Opin Pulm Med 2000;6:521-529.
24. Corey M, Edwards L, Levison H, Knowles M. Longitudinal analysis of pulmonary function decline in patients with cystic fibrosis. J Pediatr 1997;131:809-814.
25. Durno C, Corey M, Zielenski J, Tullis E, Tsui L, Durie P. Genotype and phenotype correlations in patients with CF and pancreatits. Gastroenterology 2002;123:1857-1864.
26. Vizza CD, Yusen RD, Lynch JP, Fedele F, Alexander Patterson G, Trulock EP. Outcome of patients with cystic fibrosis awaiting lung transplantation. Am J Respir Crit Care Med 2000;162:819-825.
27. The Cystic Fibrosis Genotype-Phenotype Consortium. Correlation between genotype and phenotype in patients with CF. N Engl J Med 1993;329:1308-1313.
28. O'Connor GT, Quinton HB, Kahn R, Robichaud P, Maddock J, Lever T, Detzer M, Brooks JG. Case-mix adjustment for evaluation of mortality in CF. Pediatr Pulmonol 2002;33:99-105.
29. Demko CA, Byard PJ, Davis PB. Gender differences in CF: Pseudomonas aeruginosa infection. J Clin Epidemiol 1994;43:125-131.
30. Gibson RL, Burns JL, Ramsey BW. Pathophysiology and management of pulmonary infections in cystic fibrosis. Am J Respir Crit Care Med 2003;168:918-951.
31. Emerson J, Rosenfeld M, McNamara S, Ramsey B, Gibson RL. Pseudomonas aeruginosa and other predictors of mortality and morbidity in young children with cystic fibrosis. Pediatr Pulmonol 2002;34:91-100.
32. Huang NN, Schidlow DV, Szatrowski TH, Palmer J, Laraya-Cuasay LR, Yeung W, Hardy K, Quitell L, Fiel S. Clinical features, survival rate, and prognostic factors in young adults with cystic fibrosis, Am J Med 1987;82:871-879.
33. Nixon GM, Armstrong DS, Carzino R, Carlin JB, Olinsky A, Robertson CF, Grimwood K. Clinical outcome after early Pseudomonas aeruginosa infection in cystic fibrosis. J Pediatr 2001;138:699-704.
34. Gabolde M, Guilloud-Bataille M, Feingold J, Besmond C. Association of variant alleles of mannose binding lectin with severity of pulmonary disease in cystic fibrosis: cohort study. BMJ 1999;319:1166-1167.
35. Merlo CA, Boyle MP. Modifier genes in cystic fibrosis lung disease. J Lab Clin Med 2003;141:237-241.
36. 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.
37. Olivier KN, Weber DJ, Wallace RJ Jr, Faiz AR, Lee JH, Zhang Y, Brown-Elliot BA, Handler A, Wilson RW, Schechter MS, et al. Nontuberculous mycobacteria. I: multicenter prevalence study in cystic fibrosis. Am J Respir Crit Care Med 2003;167:828-834.
38. Olivier KN, Weber DJ, Lee JH, Handler A, Tudor G, Molina PL, Tomashefski J, Knowles MR. Nontuberculous mycobacteria. II: nested-cohort study of impact on cystic fibrosis lung disease. Am J Respir Crit Care Med 2003;167:835-840.
39. Olivier KN, Weber DJ, Wallace RJ, Faiz AR, Lee JH, Zhang Y, Brown-Elliot BA, Handler A, Wilson RW, Schechter MS, et al. Nontuberculous mycobacteria: I. Multicenter prevalence study in cytic fibrosis. Am J Respir Crit Care Med 2003;167:828-834.
40. Kilby JM, Gilligan PH, Yankaskas JR, Highsmith WE, Edwards LJ, Knowles MR. Nontuberculous mycobacteria in adult patients with cystic fibrosis. Chest 1992;102:70-75.
41. Aitken ML, Burke W, McDonald G, Wallis C, Ramsey B, Nolan C. Nontuberculous mycobacterial disease in adult cystic fibrosis patients. Chest 1993;103:1096-1099.
42. Fauroux B, Delaisi B, Clement A, Saizou C, Moissenet D, Truffot-Pernot C, Tournier G, Vu Thien H. Mycobacterial lung disease in cystic fibrosis: a prospective study. Pediatr Infect Dis J 1997;16:354-358.
43. Nick JA. Nontuberculous mycobacteria in cystic fibrosis. Semin Respir Crit Care Med 2003;24:693-702.