An overview of international literature from cystic fibrosis registries. Part 3. Disease incidence, genotype/phenotype correlation, microbiology, pregnancy, clinical complications, lung transplantation, and miscellanea

Journal of Cystic Fibrosis

Volumn 10, Issue 2, 2011, Pages 71-85

  Salvatore, Donatello ^a   Buzzetti, Roberto ^b   Baldo, Ermanno ^c   Forneris, Maria Pia ^d   Lucidi, Vincenzina ^e   Manunza, Daniela ^f   Marinelli, Italo ^g   Messore, Barbara ^h   Neri, Anna Silvia ⁱ   Raia, Valeria ^j   Furnari, Maria Lucia ^k   Mastella, Gianni ^b  

^a SAN CARLO HOSPITAL   (Italy)

^b Italian Cystic Fibrosis Research Foundation   (Italy)

^c Ospedale Santa Maria del Carmine   (Italy)

^d REGINA MARGHERITA CHILDREN S HOSPITAL   (Italy)

^e BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^f BROTZU HOSPITAL   (Italy)

^g Ospedale di Agnone   (Italy)

^h SAN LUIGI GONZAGA HOSPITAL   (Italy)

ⁱ UNIVERSITY OF FLORENCE   (Italy)

^j FEDERICO II UNIVERSITY HOSPITAL   (Italy)

^k Ospedale dei Bambini G Di Cristina   (Italy)

more..

Author keywords

CF patient registry; Complications; Cystic fibrosis; Diagnosis; Disease incidence; Epidemiology; Genetic epidemiology; Lung infection; Lung transplantation; Pregnancy

Indexed keywords

ARTICLE; CLINICAL TRIAL (TOPIC); CYSTIC FIBROSIS; DIABETES MELLITUS; DISEASE REGISTRY; GENE FREQUENCY; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HEALTH CARE QUALITY; HEMOPTYSIS; HUMAN; INCIDENCE; LUNG TRANSPLANTATION; MICROBIOLOGY; NEOPLASM; PATERNITY; PNEUMOTHORAX; PREGNANCY;

EID: 79952441604     PISSN: 15691993     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jcf.2010.12.005     Document Type: Review

References (101)

1. Buzzetti R., Salvatore D., Baldo E., et al. An overview of international literature from cystic fibrosis registries: 1. Mortality and survival studies in cystic fibrosis. J Cyst Fibros 2009, 8:229-237.
2. Salvatore D., Buzzetti R., Baldo E., et al. An overview of international literature from cystic fibrosis registries 2. Neonatal screening and nutrition/growth. J Cyst Fibros 2010, 9:75-83.
3. Bobadilla J.L., Macek M., Fine J.P., Farrell P.M. Cystic fibrosis: a worldwide analysis of CFTR mutations. correlation with incidence data and application to screening. Hum Mutat 2002, 19:575-606.
4. Corey M., Farewell V. Determinants of mortality from cystic fibrosis in Canada 1970-1989. Am J Epidemiol 1996, 143:1007-1017.
5. Dupuis A., Hamilton D., Cole D.E., Corey M. Cystic Fibrosis Birth Rate in Canada: a decreasing trend since the onset of genetic testing. J Pediatr 2005, 147:312-315.
6. Valle E.P., Burgos R.I., Valle J.R., Egas Béjar D., Ruiz-Cabezas J.C. Analysis of CFTR gene mutations and cystic fibrosis incidence in the Ecuadorian population. Invest Clin 2007, 48:91-98.
7. Bellis G., Cazes M.H., Parant A., et al. Cystic fibrosis mortality trends in France. J Cyst Fibros 2007, 6:179-186.
8. Scotet V., Gillet D., Dugueperoux I., et al. Spatial and temporal distribution of cystic fibrosis and of its mutations in Brittany, France: a retrospective study from 1960. Hum Genet 2002, 111:247-254.
9. Farrell P., Joffe S., Foley L., Canny G.J., Mayne P., Rosenberg M. Diagnosis of cystic fibrosis in the Republic of Ireland: epidemiology and costs. Ir Med J 2007, 100:557-560.
10. Bossi A., Battistini F., Braggion C., et al. Registro Italiano FC: 10 anni di attivita'. Epidemiol Prev 1999, 23:5-16.
11. Bossi A., Casazza G., Padoan R. Assemblea Dei Direttori Dei Centri. What is the incidence of Cystic Fibrosis in Italy? Data from the National Registry (1988-2001). Hum Biol 2004, 76:455-467.
12. Kollberg H. Incidence and survival curves of cystic fibrosis in Sweden. Acta Paediatr Scand 1982, 71:197-202.
13. Dodge J.A., Morison S., Lewis P.A., et al. Incidence, population, and survival of cystic fibrosis in the UK, 1968-95. Arch Dis Child 1997, 77:493-496.
14. Kosorok M.R., Wei W.H., Farrell P.M. The incidence of cystic fibrosis. Stat Med 1996, 15:449-462.
15. Hamosh A., FitzSimmons S.C., Macek M., Knowles M.R., Rosenstein B.J., Cutting G.R. Comparison of clinical manifestations of cystic fibrosis in black and white patients. J Pediatr 1998, 132:255-259.
16. Castellani C., Picci L., Tamanini A., Girardi P., Rizzotti P., Assael B.M. Association between carrier screening and incidence of cystic fibrosis. JAMA 2009, 302:2573-2579.
17. Riordan J.R., Rommens J.M., Kerem B., et al. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science 1989, 245:1066-1073.
18. http://www.genet.sickkids.on.ca/cftr/app.
19. Feingold J., Guilloud-Bataille M., De Crozes D. An abnormal distribution of ΔF508 genotypes in cystic fibrosis patient registries. Ann Génét 1998, 41:31-33.
20. Koch C., Cuppens H., Rainisio M., et al. Investigators of the ERCF. European Epidemiologic Registry of Cystic Fibrosis (ERCF): comparison of major disease manifestations between patients with different classes of mutations. Pediatr Pulmonol 2001, 31:13-16.
21. McKone E.F., Emerson S.S., Edwards K.L., Aitken M.L. Effect of genotype on phenotype and mortality in cystic fibrosis: a retrospective cohort study. Lancet 2003, 361:1671-1676.
22. McKone E.F., Goss C.H., Aitken M.L. CFTR genotype as a predictor of prognosis in cystic fibrosis. Chest 2006, 130:1441-1447.
23. Palomaki G.E., Haddow J.E., Bradley L.A., FitzSimmons S.C. Update assessment of cystic fibrosis mutation frequencies in non-Hispanic Caucasians. Genet Med 2002, 2:90-94.
24. McCormick J., Ogston S.A., Sims E.J., Mehta A. Asians with cystic fibrosis in the UK have worse disease outcomes than clinic matched white homozygous DeltaF508 controls. J Cyst Fibros 2005, 4:53-58.
25. Guilloud-Bataille M., De Crozes D., Rault G., Degioanni A., Feingold J. Cystic fibrosis mutations: report from the French Registry. Hum Hered 2000, 50:142-145.
26. Badet F., Bellis G., De Braekeleer M., Nove Josserand R., Vital Durand D. Durieu I and the Cystic Fibrosis Centre of ONM. Phenotype and genotype of French cystic fibrosis patients with long survival and follow-up. Eur J Intern Med 2004, 15:238-241.
27. Duguépéroux I., Bellis G., Férec C., Gillet D., Scotet V., De Braekeleer M. Relationship between genotype and phenotype for the CFTR gene W846X mutation. J Med Genet 2002, 39:32-33.
28. Dugueperoux I. The Participating Centres to the French National Cystic Fibrosis Registry. Genotype-phenotype relationship for five CFTR mutations frequently identified in western France. J Cyst Fibros 2004, 3:259-263.
29. Dugueperoux I., Bellis G., Lesure J.F., Renouil M., Flodrops H., De Braekeleer M. Cystic Fibrosis at the Reunion Island (France): spectrum of mutations and genotype-fenotype for the Y122X mutation. J Cyst Fibros 2004, 3:185-188.
30. 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.
31. Kingdom T.T., Lee K.C., FitzSimmons S.C., Cropp G.J. Clinical characteristic and genotype analysis of patients with cystic fibrosis and nasal polyposis requiring surgery. Arch Otolaryngol Head Neck Surg 1996, 122:1209-1213.
32. Feingold J., Guilloud-Bataille M. Genetic comparison of patients with cystic fibrosis with or without meconiun ileus. Ann Génét 1999, 42:147-150.
33. Comer D.M., Ennis M., McDowell C., et al. Clinical phenotype of cystic fibrosis patients with the G551D mutation. QJM 2009, 102:793-798.
34. Maisonneuve P., Campbell P., Durie P., Lowenfels A.B. Pancreatitis in hispanic patients with cystic fibrosis carrying the R334W mutation. Clin Gastroenterol Hepatol 2004, 2:504-509.
35. http://www.cftr2.org.
36. Emerson J., Rosenfeld M., McNamara S., Ramsey B., Gibson R.L. Pseudomonas aeruginosa and other predictors of mortality and morbidity in young children with cystic fibrosis. Pediatr Pulmonol 2002, 34:91-100.
37. Lebecque P., Leal T., Zylberberg K., Reychler G., Bossuyt X., Godding V. Towards zero prevalence of chronic Pseudomonas aeruginosa infection in children with cystic fibrosis. J Cyst Fibros 2006, 5:237-244.
38. Ratjen F., Comes G., Paul K., et al. Effect of continuous antistaphylococcal therapy on the rate of P. aeruginosa acquisition in patients with cystic fibrosis. Pediatr Pulmonol 2001, 31:13-16.
39. Ren C.L., Morgan W.J., Konstan M.W., et al. For the investigators and coordinators of the ESCF. Presence of methicillin resistant Staphylococcus aureus in respiratory cultures from cystic fibrosis patients is associated with lower lung function. Pediatr Pulmonol 2007, 42:513-518.
40. Goss C.H., Otto K., Aitken M.L., Rubenfeld G.D. Detecting Stenotrophomonas maltophilia does not reduce survival of patient with cystic fibrosis. Am J Respir Crit Care Med 2002, 166:356-361.
41. Goss C.H., Mayer-Hamblett N., Aitken M.L., Rubenfeld G.D., Ramsey B.W. Association between Stenotrophomonas maltophilia and lung function in cystic fibrosis. Thorax 2004, 59:955-959.
42. Merlo C.A., Boyle M.P., Diener-West M., Marshall B.C., Goss C.H., Lechtzin N. Incidence and risk factors for multiple antibiotic-resistant Pseudomonas aeruginosa in cystic fibrosis. Chest 2007, 132:562-568.
43. Lee T.W.R., Brownlee K.G., Conway S.P., Denton M., Littlewood J.M. Evaluation of a new definition for chronic Pseudomonas aeruginosa infection in cystic fibrosis patients. J Cyst Fibros 2003, 2:29-34.
44. Shreve M.R., Butler S., Kaplowitz H.J., et al. Impact of microbiology practice on cumulative prevalence of respiratory tract bacteria in patients with cystic fibrosis. J Clin Microbiol 1999, 37:753-757.
45. Kozlowska W.J., Bush A., Wade A., et al. Lung function from infancy to the preschool years after clinical diagnosis of cystic fibrosis. Am J Respir Crit Care Med 2008, 178:42-49.
46. Goss C.H., Rubenfeld G.D., Otto K., Aitken M.L. The effect of pregnancy on survival in women with cystic fibrosis. Chest 2003, 124:1460-1468.
47. Boyd J.M., Mehta A., Murphy D.J. Fertility and pregnancy outcomes in men and women with cystic fibrosis in the United Kingdom. Hum Reprod 2004, 19:2238-2243.
48. Gillet D., de Braekeleer M., Bellis G. French Cystic Fibrosis Registry. Cystic fibrosis and pregnancy. Report from French data (1980-1999). BJOG 2002, 109:912-918.
49. McMullen A.H., Pasta D.J., Frederick P.D., et al. For the investigators and coordinators of the ESCF. Impact of pregnancy on women with cystic fibrosis. Chest 2006, 129:706-711.
50. Dugueperoux I., Hubert D., Dominique S., Bellis G., De Braekeleer M., Durieu I. Paternity in men with cystic fibrosis: a retrospective survey in France. J Cyst Fibros 2006, 5:215-221.
51. Flume P.A., Yankaskas J.R., Ebeling M., Hulsey T., Clark L.L. Massive hemoptysis in cystic fibrosis. Chest 2005, 128:729-738.
52. Flume P.A., Strange C., Ye X., Ebeling M., Hulsey T., Clark L.L. Pneumothorax in cystic fibrosis. Chest 2005, 128:720-728.
53. Koch C., Rainisio M., Madessani U., et al. Investigators of the European Epidemiologic Registry of Cystic Fibrosis. Presence of cystic fibrosis-related diabetes mellitus is tightly linked to poor lung function in patients with cystic fibrosis: data from the European Epidemiologic Registry of Cystic Fibrosis. Pediatr Pulmonol 2001, 32:343-350.
54. Marshall B.C., Butler S.M., Stoddard M., Moran A.M., Liou T.G., Morgan W.J. Epidemiology of cystic fibrosis-related diabetes. J Pediatr 2005, 146:681-687.
55. Sims E.J., Green M.W., Mehta A. Decreased lung function in female but not male subjects with established cystic fibrosis-related diabetes. Diab Care 2005, 28:1581-1587.
56. Milla C.E., Billings J., Moran A. Diabetes is associated with dramatically decreased survival in female but not male subjects with cystic fibrosis. Diab Care 2005, 28:2141-2144.
57. Liou T.G., Adler F.R., Fitzsimmons S.C., Cahill B.C., Hibbs J.R., Marshall B.C. Predictive 5-year survivorship model of cystic fibrosis. Am J Epidemiol 2001, 153:345-352.
58. Geller D.E., Kaplowitz H., Light M.J., Colin A.A. Allergic bronchopulmonary aspergillosis in cystic fibrosis: reported prevalence, regional distribution, and patient characteristics. Chest 1999, 116:639-646. on behalf of the Scientific Advisory Group, Investigators, and Coordinators of the ESCF.
59. Mastella G., Rainisio M., Harms H.K., et al. Allergic bronchopulmonary aspergillosis in cystic fibrosis. A European epidemiological study. Eur Respir J 2000, 16:464-471.
60. Smyth R.L., Ashby D., O'Hea U., et al. Fibrosing colonopathy in cystic fibrosis: results of a case-control study. Lancet 1995, 346:1247-1251.
61. FitzSimmons S.C., Burkhart G.A., Borowitz D., et al. High-dose pancreatic-enzyme supplements and fibrosing colonopathy in children with cystic fibrosis. N Engl J Med 1997, 336:1283-1289.
62. Dodge J.A. Further comments on fibrosing colonopathy study. Lancet 2001, 358:1546.
63. Mehta A. Further comments on fibrosing colonopathy study. Lancet 2001, 358:1546.
64. Neglia J.P., FitzSimmons S.C., Maisonneuve P., et al. The risk of cancer among patients with cystic fibrosis. N Engl J Med 1995, 332:494-499.
65. Maisonneuve P., FitzSimmons S.C., Neglia J.P., Campbell P.W., Lowenfels A.B. Cancer risk in nontransplanted and transplanted cystic fibrosis patients: a 10-year study. J Natl Cancer Inst 2003, 95:381-387.
66. Aurora P., Edwards L.B., Christie J.D., et al. Registry of the International Society for Heart and Lung Transplantation: Twelfth Official Pediatric Lung and Heart/Lung Transplantation Report-2009. J Heart Lung Transplant 2009, 28:1023-1030.
67. Christie J.D., Edwards L.B., Aurora P., et al. The Registry of the International Society for Heart and Lung Transplantation: Twenty-sixth Official Adult Lung and Heart-Lung Transplantation Report-2009. J Heart Lung Transplant 2009, 28:1031-1049.
68. Liou T.G., Adler F.R., Cahill B.C., et al. Survival effect of lung transplantation among patients with cystic fibrosis. JAMA 2001, 286:2683-2689.
69. Liou T.G., Adler F.R., Huang D. Use of lung transplantation survival models to refine patient selection in cystic fibrosis. Am J Respir Crit Care Med 2005, 171:1053-1059.
70. Liou T.G., Adler F.R., Cox D.R., Cahill B.C. Lung transplantation and survival in children with cystic fibrosis. N Engl J Med 2007, 357:2143-2152.
71. Mayer-Hamblett N., Rosenfeld M., Emerson J., Goss C.H., Aitken M.L. Developing cystic fibrosis lung transplant referral criteria using predictors of 2-year mortality. Am J Respir Crit Care Med 2002, 166:1550-1555.
72. Adler F.R., Aurora P., Barker D.H., et al. Lung transplantation for cystic fibrosis. Proc Am Thorac Soc 2009, 6:619-633.
73. Corey M., McLaughlin F.J., Williams M., Levison H. A comparison of survival, growth, and pulmonary function in patients with cystic fibrosis in Boston and Toronto. J Clin Epidemiol 1988, 41:583-591.
74. Rault G., Guilloud-Bataille M., Feingold J. Mucoviscidose:Analyse comparative des donnees epidemiologique des Observatoires Francais et Nord-Americains. Rev Pneumol Clin 1995, 51:115-121.
75. Delaisi B., Grosskopf C., Reignault E., Goehrs J.M., Navarro J. Registre international sur la mucoviscidose: comparaison des données francaise avec les données européennes pour 1995. Arch Pediatr 1998, 5:384-388.
76. McCormick J., Sims E.J., Green M.W., Mehta G., Culross F. Mehta. Comparative analysis of cystic fibrosis registry data from the UK with USA, France and Australasia. J Cyst Fibros 2005, 4:115-122.
77. Koch C., McKenzie S.G., Kaplowitz H., et al. International practice patterns by age and severity of lung disease in cystic fibrosis: data from the Epidemiologic Registry of Cystic Fibrosis (ERCF). Pediatr Pulmonol 1997, 24:147-154.
78. Balfour-Lynn I.M., Lees B., Hall P., et al. Am J Respir Crit Care Med 2006, 173:1356-1362.
79. Wiedemann B., Steinkamp G., Sens B., Stern M. The German cystic fibrosis quality assurance project: clinical features in children and adults. Eur Respir J 2001, 17:1187-1194. German Cystic Fibrosis Quality Assurance Group.
80. McCormick J., Mehta G., Olesen H.V., Viviani L., Macek M., Mehta A. Comparative demographics of the European cystic fibrosis population: a cross-sectional database analysis. Lancet 2010, 375:1007-1013.
81. Goss C.H., Rubenfeld G.D., Ramsey B.W., Aitken M.L. Clinical trial participants compared with nonparticipants in cystic fibrosis. Am J Respir Crit Care Med 2006, 1(173):98-104.
82. Rabin H.R., Butler S.M., Wohl M.E., et al. Epidemiologic study of cystic fibrosis. pulmonary exacerbations in cystic fibrosis. Pediatr Pulmonol 2004, 37:400-406.
83. Kulich M., Rosenfeld M., Campbell J., et al. Disease-specific reference equations for lung function in patients with cystic fibrosis. Am J Respir Crit Care Med 2005, 172:885-891.
84. Rosenfeld M., Pepe M.S., Longton G., Emerson J., FitzSimmons S., Morgan W. Effect of choice of reference equation on analysis of pulmonary function in cystic fibrosis patients. Pediatr Pulmonol 2001, 31:227-237.
85. McCormick J., Conway S.P., Mehta A. Paediatric northern score centile charts for the chest radiograph in cystic fibrosis. Clin Radiol 2007, 62:78-81.
86. Konstan M.W., Butler S.M., Schidlow D.W., Morgan W.J., Julius J.R., Johnson C.A. Patterns of medical practice in cystic fibrosis: part I. Evaluation and monitoring of health status of patients. Pediatr Pulmonol 1999, 28:242-247.
87. Konstan M.W., Butler S.M., Schidlow D.V., Morgan W.J., Julius J.R., Johnson C.A. Patterns of medical practice in cystic fibrosis: part II. Use of therapies. Pediatr Pulmonol 1999, 28:248-254.
88. Johnson C., Butler S.M., Konstan M.W., Morgan W., Wohl M.E. Factors influencing outcomes in cystic fibrosis: a center-based analysis. Chest 2003, 123:20-27.
89. Padman R., McColley S.A., Miller D.P., et al. Infant care patterns at epidemiologic study of cystic fibrosis sites that achieve superior childhood lung function. Pediatrics 2007, 119:e531-e537.
90. Callahan C.W., FitzSimmons S.C., Schidlow D.V. Source of health care for military dependents with cystic fibrosis. Mil Med 1994, 159:126-130.
91. Navarro J., Rainisio M., Harms H.K., et al. Factors associated with poor pulmonary function: cross-sectional analysis of data from the ERCF. European Epidemiologic Registry of Cystic Fibrosis. Eur Respir J 2001, 18:298-305.
92. Goss C.H., Newsom S.A., Schildcrout J.S., Sheppard L., Kaufman J.D. Effect of ambient air pollution on pulmonary exacerbations and lung function in cystic fibrosis. Am J Respir Crit Care Med 2004, 169:816-821.
93. Collaco J.M., Vanscoy L., Bremer L., et al. Interactions between secondhand smoke and genes that affect cystic fibrosis lung disease. JAMA 2008, 299:417-424.
94. Lai H.C., Kosorok M.R., Laxova A., Makholm L.M., Farrell P.M. Delayed diagnosis of US females with cystic fibrosis. Am J Epidemiol 2002, 156:165-173.
95. McCormick J., Sims E.J., Mehta A. Delayed diagnosis of females with a purely respiratory presentation of cystic fibrosis does not segregate with poorer clinical outcome. J Clin Epidemiol 2006, 59:315-322.
96. Widerman E., Millner L., Sexauer W., Fiel S. Health status and sociodemographic characteristics of adults receiving a cystic fibrosis diagnosis after age 18years. Chest 2000, 118:427-433.
97. Johnson C.A., Butler S.M., Konstan M.W., Breen T.J., Morgan W.J. Estimating effectiveness in an observational study: a case study of dornase alfa in cystic fibrosis. J Pediatr 1999, 134:734-739. for the Investigators and Coordinators of the ESCF.
98. Hodson M.E., McKenzie S., Harms 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, 36:427-432.
99. 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, 42:928-937.
100. Rothman K.J., Wentworth C.E. Mortality of cystic fibrosis patients treated with tobramycin solution for inhalation. Epidemiology 2003, 14:55-59.
101. Konstan M.W., Schluchter M.D., Xue W., Davis P.D. Clinical use of ibuprofen is associated with slower FEV1 decline in children with cystic fibrosis. Am J Respir Crit Care Med 2007, 176:1084-1089.