The impact of newborn screening and earlier intervention on the clinical course of cystic fibrosis

Paediatric Respiratory Reviews

Volumn 13, Issue 4, 2012, Pages 220-225

  Dijk, F Nicole ^a,b   Fitzgerald, Dominic A ^a,c  

^a CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^b UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^c UNIVERSITY OF SYDNEY   (Australia)

Author keywords

Cystic Fibrosis; Lung function; Newborn screening; Nutrition; Outcomes; Survival

Indexed keywords

TRANSMEMBRANE CONDUCTANCE REGULATOR;

BACTERIAL INFECTION; CAUCASIAN; CYSTIC FIBROSIS; DISEASE COURSE; GENE MUTATION; GENOTYPE; HAEMOPHILUS INFLUENZAE; HUMAN; LUNG FUNCTION; NEWBORN SCREENING; PHENOTYPE; PREVALENCE; PRIORITY JOURNAL; PSEUDOMONAS AERUGINOSA; RESPIRATORY TRACT INFECTION; REVIEW; STAPHYLOCOCCUS AUREUS; SURVIVAL; THORAX RADIOGRAPHY;

CYSTIC FIBROSIS; HUMANS; INFANT, NEWBORN; NEONATAL SCREENING;

EID: 84867649989     PISSN: 15260542     EISSN: 15260550     Source Type: Journal    
DOI: 10.1016/j.prrv.2012.05.003     Document Type: Review

References (56)

1. Shwachman H., Kulczycki L.L. Long term study of one hundred five patietns with cystic fibrosis: studies made over a five to fourteen year period. AMA J Dis Child 1958, 96:6-15.
2. 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, 96:1118-1123.
3. Moskowitz S.M., Chmiel J.F., Sternen D.L., et al. Clinical practice and genetic counselling for cystic fibrosis and CFTR-related disorders. Genet Med 2008, 10:851-868.
4. Waters D.L., Wilcken B., Irwig L., et al. Clinical outcomes of newborn screening for cystic fibrosis. Arch Dis Fetal Neonatal Ed 1999, 80:F1-F7.
5. McKay K.O., Waters D.L., Gaskin K.J. The influence of newborn screening for cystic fibrosis on pulmonary outcomes in New South Wales. J Pediatr 2005, 147:S47-S50.
6. Dankert-Roelse J.E., le Meerman G.J. Long term prognosis of patients with cystic fibrosis in relation to early detection by neonatal screening and treatment in a cystic fibrosis centre. Thorax 1995, 50:712-718.
7. Merelle M.E., Schouten J.P., Gerritsen J., et al. Influence of neonatal screening and centralised treatment on long term clinical outcome and survival of CF patients. Eur Respir J 2001, 18:306-315.
8. Siret D., Bretaudeau G., Branger B., et al. Comparing the clinical evolution of cystic fibrosis screened neonatally to that of cystic fibrosis diagnosed from clinical symptoms: a ten year retrospective study in a French region [Brittany]. Pediatr Pulmomol 2003, 35:342-349.
9. Chatfield S., Owen G., Ryley H.C., et al. Neonatal screening for cystic fibrosis in Wales and the West Midlands: clinical assessment after five years of screening. Arch Dis Child 1991, 66:29-33.
10. Farrell P.M., Li Z., Kosorock M.R., et al. Bronchopulmonary disease in children with cystic fibrosis after early or delayed diagnosis. Am J Respir Crit Care Med 2003, 168:100-1108.
11. Sims E.J., Clark A., McCormick J., et al. Cystic fibrosis diagnosed after 2 months of age leads to worse outcomes and requires more therapy. Pediatrics 2007, 119:19-28.
12. McKay K., Wilcken B. Newborn screening for cystic fibrosis offers an advantage over symptomatic diagnosis for the long term benefit of patients: the motion for. Paediatr Respir Rev 2008, 9:290-294.
13. Rosenthal M. Newborn screening for cystic fibrosis: the motion against- voices in the wilderness. Paediatr Respir Rev 2008, 9:295-300.
14. Evans A.K., Fitzgerald D.A., McKay K.O. The impact of meconium ileus on the clinical course of children with cystic fibrosis. ERJ 2001, 18:784-789.
15. Strausbaugh S.D., Davis P.B. Cystic Fibrosis: a review of epidemiology and pathobiology. Clin Chest Med 2007, 28:279-288.
16. Wilcken B., Wiley V., Sherry G., Bayliss U. Neonatal screening for cystic fibrosis: a comparison for two strategies for caase detection in 1.2 million babies. J Pediatr 1995, 127:965-970.
17. Massie R.J.H., Curnow L., Glazner J., Armstrong D.S., Francis I. Lessons learned from 20 years of newborn screening for cystic fibrosis. MJA 2012, 196:67-70.
18. McCone E.F., Emerson S.S., Edwards K.L., Aitken M.L., et al. Effect of genotype on phenotype and mortality in cystic fibrosis: a retrospective cohort study. Lancet 2003, 361:1671-1676.
19. Zielenski J., Tsui L.C. Cystic fibrosis: genotypic and phenotypic variations. Annu Rev Genet 1995, 29:777-807.
20. http://www.cff.org/aboutCFFoundation/NewsEvents/4-19-New-Website-Offers-CF-Gene-Mutation-Info.cfm. [Last updated 2012 April 19]. Site accessed 2012 April 30. http://www.cff.org/aboutCFFoundation/NewsEvents/4-19-New-Website-Offers-CF-Gene-Mutation-Info.cfm.
21. Paranjape S.M., Zeitlin P.L. Atypical cystic fibrosis and CFTR-related diseases. Clin Rev Allergy Immunol 2008, 35:116-123.
22. Corey M., Gaskin K., Durie P., Levison H., Forstner G. Improved prognosis in CF patients with normal fat absorption. J Pediatr Gastroenterol Nutr 1984, 3:S99-S105.
23. Rosenstein B.J., Zeitlin P.L. Prognosis in cystic fibrosis. Curr Opin Pulm Med 1995, 1:444-449.
24. Johnson J.A., Bush A., Buchdahl R. Does presenting with meconium ileus affect the prognosis of children with cystic fibrosis?. Pediatr Pulmonol 2010, 45:951-958.
25. Efrati O., Nir J., Fraser D., et al. Meconium ileus in patients with cystic fibrosis is not a risk factor for clinical deterioration and survival: the Israeli Multicentre Study. J Pediatr Gastroenterol Nutr 2010, 50:173-178.
26. Gaskin K., Waters D., Dorney S., Gruca M., O'Halloran M., Wilcken B. Assessment of pancreatic function in screened infants with cystic fibrosis. Pediatr Pulmonol 1991, 7:S69-S71.
27. Bronstein M.N., Sokol R.J., Abman S.H., et al. Pancreatic insufficiency, growth and nutrition in infants identified by newborn screening as having cystic fibrosis. J Pediatr 1992, 120:533-540.
28. Leeds J.S., Oppong K., Sanders J.S. The role of faecal elastase-1 in detecting exocrine pancreatic disease. Nat Rev Gastroenterol Hepatol 2011, 8:405-415.
29. Farrell P.M., Kosorok M.R., Laxova A., et al. Nutritional benefits of neonatal screening for cystic fibrosis. N Engl J Med 1997, 337:963-969.
30. Koscik R.L., Farrell P.M., Kosorock M.R., et al. Cognitive function of children with cystic fibrosis; Deleterious effect of early malnutrition. Pediatrics 2004, 113:1549-1558.
31. Hardin D.S., Adams-Huet B., Brown D., et al. Growth hormione treatment improves growth and clinical status in prepubertal children with cystic fibrosis: results of a multicentre randomized controlled trial. J Endocrinol Metab 2006, 91:4125-4129.
32. Wang S.S., FitzSimmons S.C., O'Leary L.A., Rock M.J., Gwinn M.L., Khoury M.J. Early diagnosis of cystic fibrosis in the newborn period and risk of pseudomonas aeruginosa acquisition in the first 10 years of life: a registry based longitudinal study. Pediatrics 2001, 107:274-279.
33. Wainwright C.E., Vidmar S., Armstrong D.S., et al. Effect of bronchoalveolar lavage-directed therapy on pseudomonas aeruginosa infection and structural lung injury in children with cystic fibrosis: a randomized trial. JAMA 2011, 306:163-171.
34. Cystic Fibrosis Foundation. 2008. Patient registry 2008. Annual data report to the center directors. Cystic Fibrosis Foundation, Bethesda, MD.
35. Sly P.D., Brennan S., Gangell C., et al. Lung disease at diagnosis in infants with cystic fibrosis detected by newborn screening. Am J Respir Crit Care Med 2009, 180:146-152.
36. Linnane B.M., Hall G.L., Nolan G., et al. Lung function in infants with cystic fibrosis diagnosed by newborn screening. Am J respire Crit Care Med 2008, 178:1238-1244.
37. Ranganathan S., Stocks J., Dezateux C., et al. London Collaborative Cystic Fibrosis Group. The evolution of airway function in infancy and early childhood following clinical diagnosis of cystic fibrosis. Am J Respir Crit Care Med 2004, 169:928-933.
38. Kozlowska W.J., Bush A., Wade P., 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.
39. Harrison A.N., Regelmann W.E., Zirbes J.M., Milla C.E. Longitudinal assessment of lung function from infancy to childhood in patients with cystic fibrosis. Pediatr Pulmonol 2009, 44:330-339.
40. Subbarao P., Balkovec S., Solomon M., Ratjen F. Pilot study of safety and tolerability of inhaled hypertonic saline in infants with cystic fibrosis. Pediatr Pulmonol 2007, 42:471-476.
41. Pittman J., Johnson R., Davis S.D. Improvement in Pulmonary Function Following Antibiotics in Infants with Cystic Fibrosis. Pediatr Pulmonol 2011, [Epub ahead of print]. 10.1002/ppul.21575.
42. Lum S., Gustaffson P., Ljungberg H., et al. Early detection of cystic fibrosis lung disease: Multiple breath washout versus raised volume tests. Thorax 2007, 62:431-437.
43. Aurora P., Bush A., Gustaffson P., et al. Multiple Breath Washout as a marker of lung disease in preschool children with cystic fibrosis. Am J Respir Crit Care Med 2005, 171:249-276.
44. Vilozni D., Bentur O., Efrati T., et al. Spirometry in early childhood in cystic fibrosis patients. Chest 2007, 131:356-361.
45. Kerby GS, Rosenfeld M, Ren CL. et al., Lung function distinguishes preschool children with CF from healthy controls in a multi-centre setting. Pediatr Pulmonol. 2011 Nov 11. [Epub ahead of print]. doi:10.1002/ppul.21589.
46. Fuchs S.I., Gappa M. Lung Clearance Index: clinical and research applications in children. Pediatr Resp Rev 2011, 12:264-270.
47. Hall G.L., Logie K.M., Parsons F., et al. Air Trapping on chest CT is associated with worse ventilation distribution in infants with cystic fibrosis diagnosed on newborn screening. PLoS One 2011, 6:e23932.
48. de Jong P.A., Ottink M.D., Robben S.G., et al. Pulmonary disease assessment in cystic fibrosis: comparison of CT scoring systems and value of bronchial and arterial dimension measurements. Radiology 2004, 231:434-439.
49. Stick S.M., Brennan S., Murray C., et al. Bronchiectasis in infants and preschool children diagnosed with cystic fibrosis after newborn screening. J Pediatr 2009, 155:623-628.
50. Tiddens H.A. Detecting early structural lung damage in cystic fibrosis. Pediatr Pulmonol 2002, 34:228-231.
51. Loeve M., van Hal P.T., Robinson P., et al. The spectrum of structural abnormalities on CT scans from patients with CF with severe advanced lung disease. Thorax 2009, 64:649-654.
52. Gangell C., Gard S., Douglas T., et al. Inflammatory responses to individual microorganisms in the lungs of children with cystic fibrosis. Clin Inf Dis 2011, 53:425-432.
53. Armstrong D.S., Grimwood K., Carzino R., Carlin J.B., Olinsky A., Phelan P.D. Lower respiratory infection and inflammation in infants with newly diagnosed cystic fibrosis. Brit Med J 1995, 310:1571-1572.
54. Wood L., Fitzgerald D.A., Gibson P., Cooper D.M., Collins C.E., Garg M.L. Oxidative Stress in cystic fibrosis: dietary and metabolic factors. J Am Coll Nutr 2001, 20:S157-S165.
55. Wood L., Fitzgerald D.A., Gibson P.G., Cooper D.M., Garg M.L. Increased plasma fatty acid concentrations after respiratory exacerbations are associated with elevated oxidative stress in cystic fibrosis patients. Am J Clin Nutr 2002, 75:668-675.
56. Mastella G., Zanolla L., Castellani C., et al. Neonatal screening for cystic fibrosis: long term clinical balance. Pancreatology 2001, 1:531-537.