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The Journal of Pediatrics
Volume 153, Issue 2
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, August 2008
Guidelines for Diagnosis of Cystic Fibrosis in Newborns through Older Adults: Cystic Fibrosis Foundation Consensus Report
References
- . Two-tiered immunoreactive trypsinogen (IRT/IRT)-based newborn screening for cystic fibrosis in Colorado: screening efficacy and diagnostic outcomes. J Pediatr. 2005;147(Suppl):S83–S88
- . Newborn screening for cystic fibrosis. Pediatr Ann. 2003;32:528–535
- Population-based newborn screening for genetic disorders when multiple mutation DNA testing is incorporated: a cystic fibrosis newborn screening model demonstrating increased sensitivity but more carrier detections. Pediatrics. 2004;113:1573–1581
- Cystic Fibrosis Foundation Patient Registry, 2005 Annual Data Report to the Center Directors. Bethesda, MD: Cystic Fibrosis Foundation.
- Evidence on improved outcomes with early diagnosis of cystic fibrosis through neonatal screening: enough is enough!. J Pediatr. 2005;147(Suppl):S30–S36
- . Review of outcomes of neonatal screening for cystic fibrosis versus non-screening in Europe. J Pediatr. 2005;147(Suppl):S15–S20
- . Overview of published evidence on outcomes with early diagnosis from large US observational studies. J Pediatr. 2005;147(Suppl):S11–S14
- . Complications associated with symptomatic diagnosis in infants with cystic fibrosis. J Pediatr. 2005;147(Suppl):S37–S41
- . Updated assessment of cystic fibrosis mutation frequencies in non-Hispanic Caucasians. Genet Med. 2002;4:90–94
- Cystic fibrosis: terminology and diagnostic algorithms. Thorax. 2006;61:627–635
- . Diagnostic dilemmas resulting from the immunoreactive trypsinogen/DNA cystic fibrosis newborn screening algorithm. J Pediatr. 2005;147(Suppl):S78–S82
- . The diagnosis of cystic fibrosis: a consensus statement (Cystic Fibrosis Foundation Consensus Panel). J Pediatr. 1998;132:589–595
- Identification of novel and rare mutations in California Hispanic and African-American cystic fibrosis patients. Hum Mutat. 2004;24:353;corr 2005;25:223
- . Phenotypic and genetic characterization of patients with features of ”nonclassic” forms of cystic fibrosis. J Pediatr. 2005;146:675–680
- . Genotype–phenotype relationships in cystic fibrosis. Med Clin North Am. 2000;84:597–607
- Mutation in the gene responsible for cystic fibrosis and predisposition to chronic rhinosinusitis in the general population. JAMA. 2000;284:1814–1819
- . Hepatobiliary complications of cystic fibrosis. Curr Gastroenterol Rep. 2004;6:231–239
- Pancreatic phenotype in cystic fibrosis patients identified by mutation screening. Arch Dis Child. 2007;92:842–846
- Guidelines for implementation of cystic fibrosis newborn screening programs: Cystic Fibrosis Foundation workshop report. Pediatrics. 2007;119:495–518
- . Newborn screening for cystic fibrosis: evaluation of benefits and risks and recommendations for state newborn screening programs. Morb Mortal Recomm Rep. 2004;53(RR-13):1–36
- . Neonatal screening for cystic fibrosis: a comparison of two strategies for case detection in 1.2 million babies. J Pediatr. 1995;127:965–970
- . Pancreatic function in infants identified as having cystic fibrosis in a neonatal screening program. N Engl J Med. 1990;322:303–308
- Nutritional benefits of neonatal screening for cystic fibrosis (Wisconsin Cystic Fibrosis Neonatal Screening Study Group). N Engl J Med. 1997;337:963–969
- . A test for concentration of electrolytes in sweat in cystic fibrosis of the pancreas utilizing pilocarpine by iontophoresis. Pediatrics. 1959;23:545–549
- . Chloride impermeability in cystic fibrosis. Nature. 1983;301:421–422
- . Diagnostic sweat testing: the Cystic Fibrosis Foundation guidelines. J Pediatr. 2007;151:85–89
- . Sweat testing: sample collection and quantitative analysis (Approved guideline). Document C34-A2, National Committee for Clinical Laboratory Standards. 2000;
- . Chemistry checklist, laboratory accreditation program. Accessed November 6, 2007 http://www.cap.org/apps/docs/laboratory_accreditation/checklists/chemistry_and_toxicology_april2006.pdf
- . Sweat-testing in preterm and full-term infants less than 6 weeks of age. Pediatr Pulmonol. 2005;40:64–67
- Sweat testing newborn infants detected by cystic fibrosis newborn screening. J Pediatr. 2005;147(Suppl):S69–S72
- . Testing diagnostic tests: why size matters. J Pediatr. 2005;146:159–162
- . Conductivity determined by a new sweat analyzer compared to chloride concentrations for the diagnosis of cystic fibrosis. J Pediatr. 2005;146:183–188
- . The evaluation of a novel conductometric device for the diagnosis of cystic fibrosis. Ann Clin Biochem. 2006;43:375–381
- . Assessing quality assurance for sweat chloride testing. Clin Lab Sci. 1992;5:354–357
- . Stability of chloride in sweat testing. Clin Lab Sci. 1993;6:156–157
- . Pilocarpine iontophoresis sweat testing: results of seven years' experience. In: Rossi E, Stoll E editor. Modern Problems in Pediatrics. Basel: Karger; 1967;p. 158–182
- . The limitations of sweat electrolyte reference intervals for the diagnosis of cystic fibrosis: a systematic review. Clin Biochem Rev. 2007;28:60–76
- . Newborn screening for cystic fibrosis in Victoria: 10 years' experience (1989-1998). Med J Aust. 2000;172:584–587
- . The reliability of sweat testing at six weeks following newborn screening for cystic fibrosis in NSW, 1995-1996 [abstract]. Am J Resp Crit Care Med. 1998;157:126
- . Sweat chloride concentrations in infants homozygous or heterozygous for ΔF508 cystic fibrosis. Pediatrics. 1996;97:524–528
- . Sweat testing following newborn screening for cystic fibrosis. Pediatr Pulmonol. 2000;29:452–456
- . Negative sweat test in hypertrypsinaemic infants with cystic fibrosis carrying rare CFTR mutations. Eur J Pediatr. 2002;161:212–215
- . Diagnosis of cystic fibrosis after newborn screening: the Australasian experience (Twenty years and five million babies later: a consensus statement from the Australasian Paediatric Respiratory Group). Pediatr Pulmonol. 2005;39:440–446
- . Sweat testing in newborns positive to neonatal screening for cystic fibrosis. Arch Dis Child Fetal Neonatal Ed. 2004;89:F463–F464
- . Newborn screening for cystic fibrosis in Wisconsin: nine years experience with routine trypsinogen/DNA testing. J Pediatr. 2005;147(Suppl):S73–S77
- . Sweat sodium and chloride concentrations: essential criteria for the diagnosis of cystic fibrosis in adults. Ann Clin Biochem. 1990;27(Pt 4):318–320
- . Sweat electrolytes: Establishing a reference range in adolescents and adults [abstract]. Aust J Med Sci. 2006;27:171
- . Distribution of sweat chloride values in patients with cystic fibrosis [abstract]. Pediatr Pulmonol. 2003;25(Suppl):337
- A novel mutation in the cystic fibrosis gene in patients with pulmonary disease but normal sweat chloride concentrations. N Engl J Med. 1994;331:974–980
- . Normal sweat chloride values do not exclude the diagnosis of cystic fibrosis. Am J Respir Crit Care Med. 1995;151:899–903
- . Mutations of the cystic fibrosis gene and intermediate sweat chloride levels in children. Am J Respir Crit Care Med. 2002;165:757–761
- Mutations in the cystic fibrosis transmembrane regulator gene and in vivo transepithelial potentials. Am J Respir Crit Care Med. 2006;174:787–794
- . Clinical manifestations of cystic fibrosis among patients with diagnosis in adulthood. Chest. 2004;126:1215–1224
- . Manifestations of cystic fibrosis diagnosed in adulthood. Curr Opin Pulm Med. 2005;11:513–518
- The cystic fibrosis transmembrane conductance regulator gene and ion channel function in patients with idiopathic pancreatitis. Hum Genet. 2005;118:372–381
- Improved detection of CFTR mutations in Southern California Hispanic CF patients. Hum Mutat. 2001;18:296–307
- . Increased incidence of cystic fibrosis gene mutations in adults with disseminated bronchiectasis. Hum Mol Genet. 1995;4:635–639
- Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in allergic bronchopulmonary aspergillosis. Am J Hum Genet. 1996;59:45–51
- A mutation in CFTR produces different phenotypes depending on chromosomal background. Nat Genet. 1993;5:274–278
- . Intron-8 polythymidine sequence in Australasian individuals with CF mutations R117H and R117C. Eur Respir J. 2001;17:1195–1200
- Immunoreactive trypsin/DNA newborn screening for cystic fibrosis: should the R117H variant be included in CFTR mutation panels?. Pediatrics. 2006;118:e1523–e1529
- . Pitfalls in the use of genotype analysis as the sole diagnostic criterion for cystic fibrosis. Pediatrics. 1999;103:823–826
- . Early pulmonary manifestation of cystic fibrosis in children with the deltaF508/R117H-7T genotype. Pediatrics. 2006;118:1260–1265
- . Infertility in men with cystic fibrosis. Curr Opin Pulm Med. 2001;7:421–426
- Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens. Hum Genet. 1997;100:365–377
- . Pathophysiology of the pancreas in cystic fibrosis. Neth J Med. 1992;41:97–100
- . Prediction of mortality in patients with cystic fibrosis. N Engl J Med. 1992;326:1187–1191
- Genetic modifiers of lung disease in cystic fibrosis. N Engl J Med. 2005;353:1443–1453
- Pancreatic insufficiency, growth, and nutrition in infants identified by newborn screening as having cystic fibrosis. J Pediatr. 1992;120:533–540
- . Fecal elastase-1: utility in pancreatic function in cystic fibrosis. J Cyst Fibros. 2006;5:71–76
- . Faecal elastase 1 levels in premature and full-term infants. Arch Dis Child Fetal Neonatal Ed. 2003;88:F106–F108
- Age-related alterations of immunoreactive pancreatic cationic trypsinogen in sera from cystic fibrosis patients with and without pancreatic insufficiency. Pediatr Res. 1986;20:209–213
- Genetic and physiologic correlates of longitudinal immunoreactive trypsinogen decline in infants with cystic fibrosis identified through newborn screening. J Pediatr. 2006;149:650–657
- . In vivo nasal potential difference: techniques and protocols for assessing efficacy of gene transfer in cystic fibrosis. Hum Gene Ther. 1995;6:445–455
- Uncertainty in the diagnosis of cystic fibrosis: possible role of in vivo nasal potential difference measurements. J Pediatr. 1998;132:596–599
- Standardized procedure for measurement of nasal potential difference: an outcome measure in multicenter cystic fibrosis clinical trials. Pediatr Pulmonol. 2004;37:385–392
- Cystic fibrosis population carrier screening: 2004 revision of the American College of Medical Genetics mutation panel. Genet Med. 2004;6:387–391
- . Cystic fibrosis diagnosed after 2 months of age leads to worse outcomes and requires more therapy. Pediatrics. 2007;119:19–28
- . The meaning of “early” diagnosis in a new era of cystic fibrosis care. Pediatrics. 2007;119:156–157
- The relation between genotype and phenotype in cystic fibrosis: analysis of the most common mutation (delta F508). N Engl J Med. 1990;323:1517–1522
Supported by funds from the Cystic Fibrosis Foundation.
Please see the Author Disclosure section at the end of this article.
No reprints are available from the authors.
PII: S0022-3476(08)00398-3
doi: 10.1016/j.jpeds.2008.05.005
© 2008 Mosby, Inc. All rights reserved.
« Previous
The Journal of Pediatrics
Volume 153, Issue 2
, Pages S4-S14
, August 2008
