Is early identification of asymptomatic infants with 'mild' CFTR genotypes clinically useful? [5]

Acta Paediatrica, International Journal of Paediatrics

Volumn 96, Issue 3, 2007, Pages 477-479

  Colombo, C ^a   Costantini, D ^a   Russo, M C ^a   Claut, L ^a   Porcaro, L ^a   Nobili, R ^a  

^a FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ANTIBIOTIC AGENT; CHLORIDE; CYSTIC FIBROSIS TRANSMEMBRANE REGULATOR PROTEIN; ELASTASE; PROTEIN; TRYPSIN; UNCLASSIFIED DRUG;

ANTHROPOMETRY; BRONCHOSCOPY; CHILD; CLINICAL ARTICLE; CLINICAL EXAMINATION; CYSTIC FIBROSIS; FEMALE; GENE MUTATION; GENOTYPE; GRAM NEGATIVE INFECTION; HUMAN; HYPONATREMIA; INFANT; LETTER; LUNG FUNCTION TEST; LUNG LAVAGE; MALE; METABOLIC ALKALOSIS; NEWBORN SCREENING; PATHOGENESIS; PRIORITY JOURNAL; PSEUDOMONAS AERUGINOSA; RESPIRATORY TRACT DISEASE; SPIROMETRY; SPUTUM CULTURE; STATISTICAL SIGNIFICANCE; SWEAT TEST; THORAX RADIOGRAPHY; ULTRASOUND;

CHILD, PRESCHOOL; CHLORIDES; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; FEMALE; FOLLOW-UP STUDIES; GENOTYPE; HETEROZYGOTE DETECTION; HUMANS; INFANT; MALE; MUTATION; SWEAT; TRYPSIN;

EID: 33947309420     PISSN: 08035253     EISSN: 16512227     Source Type: Journal    
DOI: 10.1111/j.1651-2227.2007.00142.x     Document Type: Letter

References (12)

1. Padoan R, Corbetta C, Bassotti A, Seia M. Identification of the 5T-12TG allele of the cystic fibrosis transmembrane conductance regulator gene in hypertrypsinaemic newborns. Acta Paediatr 2006; 95: 871-3.
2. Sun W, Anderson B, Redman J, Milunsky A, Buller A, McGinniss MJ, et al. CFTR 5T variant has a low penetrance in females that is partially attributable to its haplotype. Genet Med 2006; 8: 339-45.
3. De Boeck K, Wilschanski M, Castellani C, Taylor C, Cuppens H, Dodge J, et al. Cystic Fibrosis:terminology and diagnostic algorithms. Thorax 2006; 61: 627-35.
4. Derichs N, Schuster A, Grund I, Ernsting A, Stolpe C, Kortge-Jung S, et al. Homozygosity for L997F in a child with normal clinical and chloride secretory phenotype provides evidence that this cystic fibrosis transmembrane conductance regulator mutation does not cause cystic fibrosis. Clin Genet 2005; 67: 529-31.
5. Desmarquest P, Feldmann D, Tamalat A, Boule M, Fauroux B, Tournier G, et al. Genotype analysis and phenotypic manifestations of children with intermediate sweat chloride results. Chest 2000; 188: 1591-97.
6. Salvatore D, Tomaiuolo R, Vanacore B, Elce A, Castaldo G, Salvatore F. Isolated elevated sweat chloride concentrations in the presence of the rare mutation S1455X: an extremely mild form of CFTR dysfunction. Am J Med Genet A 2005; 133: 207-8.
7. Epaud R, Girodon E, Corvol H, Niel F, Guigonis V, Clement A, et al. Mild cystic fibrosis revealed by persistent hyponatremia during the French 2003 heat wave, associated with the S1455X C-terminus CFTR mutation. Clin Genet 2005 Dec; 68: 552-3.
8. Mussaffi H, Prais D, Mei-Zahav M, Blau H. Cystic fibrosis mutations with widely variable phenotype: the D1152H example. Pediatr Pulmonol 2006 Mar; 41: 250-4.
9. Cuppens H, Cassiman JJ. CFTR mutations and polymorphisms in male infertility. Int J Androl 2004; 27: 251-6.
10. Price JF. Newborn screening for cystic fibrosis: do we need a second IRT? Arch Dis Child 2006; 91: 209-10.
11. Newborn screening: toward a uniform screening panel and system. http://mihb.hrsa.gov/screening/summary.htm
12. Farrel MH, Farrel PM. Newborn screening for cystic fibrosis: ensuring more good than harm. J Pediatr 2003; 143: 707-12.