The CF-CIRC study: A French collaborative study to assess the accuracy of Cystic Fibrosis diagnosis in neonatal screening

BMC Pediatrics

Volumn 6, Issue , 2006, Pages

  Sermet Gaudelus, Isabelle ^a,b   Roussel, Delphine ^b   Bui, Stéphanie ^c   Deneuville, Eric ^d   Huet, Frédéric ^e   Reix, Philippe ^f   Bellon, Gabriel ^f   Lenoir, Gérard ^a   Edelman, Aleksander ^b,g  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b INSERM   (France)

^c HÔPITAL PELLEGRIN   (France)

^d SERVICE DE RHUMATOLOGIE   (France)

^e AIX MARSEILLE UNIVERSITY   (France)

^f HÔPITAL DEBROUSSE   (France)

^g UNIVERSITÉ PARIS DESCARTES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

AMILORIDE; BETA ADRENERGIC RECEPTOR STIMULATING AGENT; CHLORIDE ION; ISOPRENALINE; SODIUM CHANNEL BLOCKING AGENT; SODIUM ION; TRANSMEMBRANE CONDUCTANCE REGULATOR;

ARTICLE; CATHETER; CLINICAL ARTICLE; CONTROLLED STUDY; CYSTIC FIBROSIS; DIAGNOSTIC ACCURACY; FRANCE; GENE MUTATION; HUMAN; INFANT; NEWBORN; NEWBORN SCREENING; PERFUSION; PRESCHOOL CHILD; SODIUM TRANSPORT; SWEAT; VALIDATION PROCESS;

AMILORIDE; CATHETERIZATION; CHILD, PRESCHOOL; CHLORIDES; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; ELECTRIC CONDUCTIVITY; ELECTRODES, IMPLANTED; EQUIPMENT DESIGN; FEMALE; FRANCE; GENETIC TESTING; HUMANS; INFANT; INFANT, NEWBORN; ION TRANSPORT; ISOPROTERENOL; MALE; NASAL MUCOSA; NEONATAL SCREENING; PERFUSION; PREDICTIVE VALUE OF TESTS; REFERENCE VALUES; RESEARCH DESIGN; SENSITIVITY AND SPECIFICITY; SODIUM; SODIUM CHANNEL BLOCKERS; SUBCUTANEOUS TISSUE; SWEAT; SYMPATHOMIMETICS;

EID: 33749984851     PISSN: 14712431     EISSN: 14712431     Source Type: Journal    
DOI: 10.1186/1471-2431-6-25     Document Type: Article

References (23)

1. Corey M, McLaughlin FJ, 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(6):583-591.
2. Anderson MP, Gregory RJ, Thompson S, Souza DW, Paul S, Mulligan RC, Smith AE, Welsh MJ: Demonstration that CFTR is a chloride channel by alteration of its anion selectivity. Science 1991, 253(5016):202-205.
3. Stern RC: The diagnosis of cystic fibrosis. N Engl J Med 1997, 336(7):487-491.
4. Farrell PM, Lai HJ, Li Z, Kosorok MR, Laxova A, Green CG, Collins J, Hoffman G, Laessig R, Rock MJ, et al.: Evidence on improved outcomes with early diagnosis of cystic fibrosis through neonatal screening: enough is enoughl J Pediatr 2005, 147(3 Suppl):S30-36.
5. Gregg RG, Simantel A, Farrell PM, Koscik R, Kosorok MR, Laxova A, Laessig R, Hoffman G, Hassemer D, Mischler EH, Splaingard M: New-born screening for cystic fibrosis in Wisconsin: comparison of biochemical and molecular methods. Pediatrics 1997, 99(6):819-824.
6. Crossley JR, Elliott RB, Smith PA: Dried-blood spot screening for cystic fibrosis in the newborn. Lancet 1979, 1(8114):472-474.
7. Sontag MK, Hammond KB, Zielenski J, Wagener JS, Accurso FJ: Two-tiered immunoreactive trypsinogen-based newborn screening for cystic fibrosis in Colorado: screening efficacy and diagnostic outcomes. J Pediatr 2005, 147(3 Suppl):S83-88.
8. Castellani C, Tamanini A, Mastella G: Protracted neonatal hypertrypsinogenaemia, normal sweat chloride, and cystic fibrosis. Arch Dis Child 2000, 82(6):481-482.
9. Wilcken B, Brown AR, Urwin R, Brown DA: Cystic fibrosis screening by dried blood spot trypsin assay: results in 75,000 newborn infants. J Pediatr 1983, 102(3):383-387.
10. De Boeck K, Wilschanski M, Castellani C, Taylor C, Cuppens H, Dodge J, Sinaasappel M: Cystic fibrosis: terminology and diagnostic algorithms. Thorax 2006, 61(7):627-635.
11. Rosenstein BJ. Cutting GR: The diagnosis of cystic fibrosis: a consensus statement. Cystic Fibrosis Foundation Consensus Panel. J Pediatr 1998, 132(4):589-595.
12. Castellani C, Benetazzo MG, Tamanini A, Begnini A, Mastella G, Pignatti P: Analysis of the entire coding region of the cystic fibrosis transmembrane regulator gene in neonatal hypertrypsinaemia with normal sweat test. J Med Genet 2001, 38(3):202-205.
13. Farrell PM, Koscik RE: Sweat chloride concentrations in infants homozygous or heterozygous for F508 cystic fibrosis. Pediatrics 1996, 97(4):524-528.
14. Knowles MR, Paradiso AM, Boucher RC: In vivo nasal potential difference: techniques and protocols for assessing efficacy of gene transfer in cystic fibrosis. Hum Gene Ther 1995, 6(4):445-455.
15. Delmarco A, Pradal U, Cabrini G, Bonizzato A, Mastella G: Nasal potential difference in cystic fibrosis patients presenting borderline sweat test. Eur Respir J 1997, 10(5):1145-1149.
16. Wilschanski M, Famini H, Strauss-Liviatan N, Rivlin J, Blau H, Bibi H, Bentur L, Yahav Y, Springer H, Kramer MR, Klar A, Ilani A, Kerem B, Kerem E: Nasal potential difference measurements in patients with atypical cystic fibrosis. Eur Respir J 2001, 17(6):1208-1215.
17. Barker PM, Gowen CW, Lawson EE, Knowles MR: Decreased sodium ion absorption across nasal epithelium of very premature infants with respiratory distress syndrome. J Pediatr 1997, 130(3):373-377.
18. Gowen CW Jr, Lawson EE, Gingras J, Boucher RC, Gatzy JT, Knowles MR: Electrical potential difference and ion transport across nasal epithelium of term neonates: correlation with mode of delivery, transient tachypnea of the newborn, and respiratory rate. J Pediatr 1988, 113(1 Pt 1): 121-127.
19. Southern KW, Noone PG, Bosworth DG, Legrys VA, Knowles MR, Barker PM: A modified technique for measurement of nasal transepithelial potential difference in infants. J Pediatr 2001, 139(3):353-358.
20. Sermet-Gaudelus I, Dechaux M, Vallee B, Fajac A, Girodon E, Nguyen-Khoa T, Marianovski R, Hurbain I, Bresson JL, Lenoir G, Edelman A: Chloride transport in nasal ciliated cells of cystic fibrosis heterozygotes. Am J Respir Crit Care Med 2005, 171(9):1026-1031.
21. Castellani C, Benetazzo MG, Bonizzato A, Pignatti PF, Mastella G: Cystic fibrosis mutations in heterozygous newborns with hypertrypsinemia and low sweat chloride. Am J Hum Genet 1999, 64(1):303-304.
22. Padoan R, Bassotti A, Seia M, Corbetta C: Negative sweat test in hypertrypsinaemic infants with cystic fibrosis carrying rare CFTR mutations. Eur J Pediatr 2002, 161(4):212-215.
23. Doughty IM, Ward I, Schwarz M, David TJ: Delayed diagnosis of cystic fibrosis due to normal sweat electrolytes. J R Soc Med 1995, 88(7):417P-418P.