Measurement of nasal potential difference in young children with an equivocal sweat test following newborn screening for cystic fibrosis

Thorax

Volumn 65, Issue 6, 2010, Pages 539-544

  Sermet Gaudelus, Isabelle ^a   Girodon, Emmanuelle ^b   Roussel, Delphine ^a   Deneuville, Eric ^c   Bui, Stéphanie ^d   Huet, Frédéric ^e   Guillot, Marcel ^f   Aboutaam, Rola ^a   Renouil, Michel ^f   Munck, Anne ^g   Georges, Marie Des ^h   Iron, Albert ^d   Thauvin Robinet, Christel ^e   Fajac, Isabelle ⁱ   Lenoir, Gerard ^a   Roussey, Michel ^c   Edelman, Aleksander ^a  

^a INSERM   (France)

^b HENRI MONDOR HOSPITAL   (France)

^c PONTCHAILLOU UNIVERSITY HOSPITAL   (France)

^d HÔPITAL PELLEGRIN   (France)

^e HÔPITAL DU BOCAGE   (France)

^f AIX MARSEILLE UNIVERSITY   (France)

^g HÔPITAL ROBERT DEBRÉ   (France)

^h HÔPITAL ARNAUD DE VILLENEUVE   (France)

ⁱ Hôpital Arnaud de Villeneuve ^*  (France)

Author keywords

[No Author keywords available]

Indexed keywords

CHLORIDE; SODIUM; TRANSMEMBRANE CONDUCTANCE REGULATOR; TRYPSIN; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR;

ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; CYSTIC FIBROSIS; DIAGNOSTIC VALUE; FOLLOW UP; GENETIC SCREENING; GENOTYPE; HUMAN; INFANT; MUTATION; NEWBORN; NEWBORN SCREENING; PHENOTYPE; POTENTIAL DIFFERENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN FUNCTION; SWEAT TEST; BLOOD; CHEMISTRY; CLINICAL TRIAL; EVALUATION STUDY; GENETICS; MEMBRANE POTENTIAL; MULTICENTER STUDY; NOSE MUCOSA; PATHOPHYSIOLOGY; PHYSIOLOGY; PROCEDURES; PROGNOSIS; SWEAT;

CHILD, PRESCHOOL; CHLORIDES; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; FOLLOW-UP STUDIES; GENETIC TESTING; HUMANS; INFANT; INFANT, NEWBORN; MEMBRANE POTENTIALS; NASAL MUCOSA; NEONATAL SCREENING; PROGNOSIS; SWEAT; TRYPSIN;

EID: 77953705905     PISSN: 00406376     EISSN: 14683296     Source Type: Journal    
DOI: 10.1136/thx.2009.123422     Document Type: Article

References (26)

1. Rowe S, Miller S, Sorscher EJ. Cystic fibrosis. N Engl J Med 2005;352:1992-2001.
2. Rosenstein BJ, Cutting GR. for the Cystic Fibrosis Foundation Consensus Panel. The diagnosis of cystic fibrosis: a consensus statement. J Pediatr 1998;132:689-95.
3. Farrell PM, Rosenstein BJ, White TB, et al. Guidelines for diagnosis of cystic fibrosis in newborns through older adults. Cystic Fibrosis Foundation consensus report. J Pediatr 2008;153:S4-S14.
4. Farrell PM, Kosorok MR, Rock MJ, et al. Early diagnosis of cystic fibrosis through neonatal screening prevents severe malnutrition and improves long-term growth. Pediatrics 2001;107:1-13.
5. Southern KW, Munck A, Pollitt R, et al. A survey of newborn screening for cystic fibrosis in Europe. J Cyst Fibr 2007;6:57-65.
6. Parad RB, Comeau AM. Diagnostic dilemmas resulting from the immunoreactive trypsinogen/DNA cystic fibrosis newborn screening algorithm. J Pediatr 2005;147 (3 Suppl):S78-82.
7. Castellani C, Benetazzo MG, Tamanini A, et al. Analysis of the entire coding region of the cystic fibrosis transmembrane regulator gene in neonatal hypertrypsinaemia with normal sweat test. J Med Genet 2001;38:202-5. (Pubitemid 32250877)
8. 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 1993;6:445-55.
9. Sermet-Gaudelus I, Dechaux M, Vallée B, et al. Chloride transport in nasal ciliated cells of cystic fibrosis heterozygotes. Am J Respir Crit Care Med 2005;171:1026-31.
10. Wilschanski M, Famini H, Strauss-Liviatan N, et al. Nasal potential difference measurements in patients with atypical cystic fibrosis. Eur Respir J 2001;17:1208-15.
11. De Boeck K, Wilschanski M, Castellani C, et al. Cystic fibrosis: terminology and diagnostic algorithms. Thorax 2006;61:627-35.
12. Munck A, Dhondt JL, Sahler C, et al. Implementation of the French nationwide cystic fibrosis newborn screening program. J Pediatr 2008;153:228-33.
13. Fanen P, Ghanem N, Vidaud M, et al. Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctions. Genomics 1992;13:770-6.
14. Le Maréchal C, Audrezet MP, Quéré I, et al. Complete and rapid scanning of the cystic fibrosis tranmembrane conductance regulator (CFTR) gene by denaturing high-performance liquid chromatography (D-HPLC): major implications for genetic counselling. Hum Genet 2001;108:290-8.
15. Audrézet MP, Chen JM, Raguénès O, et al. Genomic rearrangements in the CFTR gene: extensive allelic heterogeneity and diverse mutational mechanisms. Hum Mutat 2004;23:343-57.
16. Niel F, Martin J, Dastot-Le Moal F, et al. Rapid detection of CFTR gene rearrangements impacts on genetic counselling in cystic fibrosis. J Med Genet 2004;41:e118.
17. Castellani C, Cuppens H, Macek M Jr, et al. Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice. J Cyst Fibr 2008;7:179-86.
18. Goubau C, Wilschanski M, Skalická V, et al. Phenotypic characterization of patients with intermediate sweat chloride values: towards validation of the European diagnostic algorithm for cystic fibrosis. Thorax 2009;64:683-91.
19. Walkowiak J, Herzig KH, Strzykala K, et al. Feacal elastase-1 is superior to fecal chymotrypsin in the assessment of pancreatic involvement in cystic fibrosis. Pediatrics 2002;110:e7.
20. Bossuyt P, Reitsma J, Bruns D, et al. Towards complete and accurate reporting of studies of diagnostic accuracy: the STARD initiative. Clin Chem 2003;49:1-6. (Pubitemid 36078546)
21. Southern KW, Noone PG, Bosworth DG, et al. A modified technique for measurement of nasal transepithelial potential difference in infants. J Pediatr 2001;139:353-8.
22. Sermet-Gaudelus I, Roussel D, Bui S, et al. The CF-CIRC study; a French collaborative study to assess the accuracy of cystic fibrosis diagnosis in neonatal screening. BMC Pediatr 2006;6:25-30.
23. Sermet-Gaudelus I, Girodon E, Huet F, et al. Nasal potential difference in cystic fibrosis diagnosis of very young children. J Pediatr 2007;150:e34-5.
24. Thauvin-Robinet C, Munck A, Huet F, et al. The very low penetrance of cystic fibrosis and CFTR-related disorders in individuals with the [R117H;T7]+[F508del] genotype: a reappraisal for genetic counselling and diagnostic practice. J Med Genet 2009;46:752-8.
25. O'Sullivan BP, Zwerdling RG, Dorkin HL, et al. Early pulmonary manifestation of cystic fibrosis in children with the DeltaF508/R117H-7T genotype. Pediatrics 2006;118:1260-5.
26. Mayell SJ, Munck A, Craig JV, et al. A European consensus for the evaluation and management of infants with an equivocal diagnosis following newborn screening for cystic fibrosis. J Cyst Fibr 2008;8:71-8.