Diagnosis of Cystic Fibrosis: Consensus Guidelines from the Cystic Fibrosis Foundation
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Margaret Rosenfeld | Frank Accurso | Philip M. Farrell | M. Rosenfeld | S. McColley | P. Sosnay | N. Derichs | F. Accurso | P. Farrell | I. Sermet-Gaudelus | K. Southern | B. Marshall | M. Rock | Isabelle Sermet-Gaudelus | C. Ren | Nico Derichs | Terry B. White | Clement L. Ren | Sarah E. Hempstead | Michelle Howenstine | Susanna A. McColley | Michael Rock | Kevin W. Southern | Bruce C. Marshall | Patrick R. Sosnay | S. Hempstead | M. Howenstine
[1] Normal sweat chloride values do not exclude the diagnosis of cystic fibrosis. , 1995, American journal of respiratory and critical care medicine.
[2] P. Farrell,et al. Immunoreactive Trypsinogen (IRT) as a Biomarker for Cystic Fibrosis: challenges in newborn dried blood spot screening. , 2012, Molecular genetics and metabolism.
[3] M. Pearl,et al. Newborn Screening for Cystic Fibrosis in California , 2015, Pediatrics.
[4] R. Laessig,et al. Immunoreactive trypsinogen screening for cystic fibrosis: Characterization of infants with a false‐positive screening test , 1989, Pediatric pulmonology.
[5] M. Amaral,et al. CFTR biomarkers: time for promotion to surrogate end-point , 2012, European Respiratory Journal.
[6] Vicky A Legrys,et al. Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation consensus report. , 2008, The Journal of pediatrics.
[7] R. Parad,et al. Diagnostic dilemmas resulting from the immunoreactive trypsinogen/DNA cystic fibrosis newborn screening algorithm. , 2005, The Journal of pediatrics.
[8] M. Koenig,et al. A false positive newborn screening result due to a complex allele carrying two frequent CF-causing variants. , 2016, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.
[9] M. Rosenfeld,et al. Guidelines for Implementation of Cystic Fibrosis Newborn Screening Programs: Cystic Fibrosis Foundation Workshop Report , 2007, Pediatrics.
[10] M. Amaral,et al. CFTR Cl- channel function in native human colon correlates with the genotype and phenotype in cystic fibrosis. , 2004, Gastroenterology.
[11] A. Munck,et al. Cystic Fibrosis Transmembrane Conductance Regulator‐Related Metabolic Syndrome and Cystic Fibrosis Screen Positive, Inconclusive Diagnosis , 2017, The Journal of pediatrics.
[12] P. Burgel,et al. Future trends in cystic fibrosis demography in 34 European countries , 2015, European Respiratory Journal.
[13] S. McColley,et al. Refining the continuum of CFTR‐associated disorders in the era of newborn screening , 2016, Clinical genetics.
[14] J. Stocks,et al. Evaluation and use of childhood lung function tests in cystic fibrosis , 2012, Current opinion in pulmonary medicine.
[15] M. Corey,et al. Does integration of various ion channel measurements improve diagnostic performance in cystic fibrosis? , 2014, Annals of the American Thoracic Society.
[16] J. Yankaskas,et al. Diagnostic sweat testing: the Cystic Fibrosis Foundation guidelines. , 2007, The Journal of pediatrics.
[17] J. Haddow,et al. Clinical sensitivity of prenatal screening for cystic fibrosis via CFTR carrier testing in a United States panethnic population , 2004, Genetics in Medicine.
[18] P. Sosnay,et al. Applying Cystic Fibrosis Transmembrane Conductance Regulator Genetics and CFTR2 Data to Facilitate Diagnoses , 2017, The Journal of pediatrics.
[19] A. Tluczek,et al. When the Cystic Fibrosis Label Does Not Fit: A Modified Uncertainty Theory , 2010, Qualitative health research.
[20] Xinhua Liu,et al. Classic respiratory disease but atypical diagnostic testing distinguishes adult presentation of cystic fibrosis. , 2010, Chest.
[21] E. Achkar,et al. Pancreatitis as initial presentation of cystic fibrosis in young adults , 1983, Digestive Diseases and Sciences.
[22] K. Klein,et al. A systematic review of studies examining the rate of lung function decline in patients with cystic fibrosis. , 2016, Paediatric respiratory reviews.
[23] L. Tsui,et al. A mutation in CFTR produces different phenotypes depending on chromosomal background , 1993, Nature Genetics.
[24] B. Kerem,et al. Mild cystic fibrosis and normal or borderline sweat test in patients with the 3849 + 10 kb C → T mutation , 1993, The Lancet.
[25] M. Boyle,et al. A new era in the treatment of cystic fibrosis: correction of the underlying CFTR defect. , 2013, The Lancet. Respiratory medicine.
[26] M. Rosenfeld,et al. Cystic Fibrosis Foundation practice guidelines for the management of infants with cystic fibrosis transmembrane conductance regulator-related metabolic syndrome during the first two years of life and beyond. , 2009, The Journal of pediatrics.
[27] B. Kerem,et al. Recommendations for the classification of diseases as CFTR-related disorders. , 2011, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.
[28] M. Corey,et al. Clinical manifestations of cystic fibrosis among patients with diagnosis in adulthood. , 2004, Chest.
[29] F. Stanke,et al. Ex vivo CF diagnosis by intestinal current measurements (ICM) in small aperture, circulating Ussing chambers. , 2004, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.
[30] M. Kosorok,et al. The incidence of cystic fibrosis. , 1996, Statistics in medicine.
[31] L. Tsui,et al. Erratum: Identification of the Cystic Fibrosis Gene: Genetic Analysis , 1989, Science.
[32] N. Derichs,et al. Cystic Fibrosis Screen Positive, Inconclusive Diagnosis (CFSPID): A new designation and management recommendations for infants with an inconclusive diagnosis following newborn screening. , 2015, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.
[33] D. Sanders,et al. Outcomes of Infants With Indeterminate Diagnosis Detected by Cystic Fibrosis Newborn Screening , 2015, Pediatrics.
[34] M. Laughon,et al. Sweat‐testing in preterm and full‐term infants less than 6 weeks of age , 2005, Pediatric pulmonology.
[35] D. Sanders,et al. Diagnosis of Cystic Fibrosis in Screened Populations , 2017, The Journal of pediatrics.
[36] C. Castellani,et al. Cystic Fibrosis Diagnostic Challenges over 4 Decades: Historical Perspectives and Lessons Learned , 2017, The Journal of pediatrics.
[37] S. Ranganathan,et al. Vitamin D in infants with cystic fibrosis diagnosed by newborn screening , 2009, Journal of paediatrics and child health.
[38] George P Patrinos,et al. Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene , 2013, Nature Genetics.
[39] P. Farrell,et al. Factors accounting for a missed diagnosis of cystic fibrosis after newborn screening , 2011, Pediatric pulmonology.
[40] S. McColley,et al. The need for quality improvement in sweat testing infants after newborn screening for cystic fibrosis. , 2010, The Journal of pediatrics.
[41] K. Jarvi,et al. Comparing the American and European diagnostic guidelines for cystic fibrosis: same disease, different language? , 2012, Thorax.
[42] Victoria M. Pratt,et al. Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel , 2004, Genetics in Medicine.
[43] P. Mueller,et al. CFTR mutation analysis and haplotype associations in CF patients. , 2012, Molecular genetics and metabolism.
[44] J. Dankert-Roelse,et al. Newborn screening for cystic fibrosis. , 2009, The Cochrane database of systematic reviews.
[45] E. Génin,et al. The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening , 2009, Journal of Medical Genetics.
[46] Antonia Zapf,et al. Intestinal current measurement for diagnostic classification of patients with questionable cystic fibrosis: validation and reference data , 2010, Thorax.
[47] R. Koscik,et al. Newborn Screening for Cystic Fibrosis: Parents’ Preferences Regarding Counseling At the Time of Infants’ Sweat Test , 2006, Journal of Genetic Counseling.
[48] M. Rosenfeld,et al. Cystic Fibrosis Foundation evidence-based guidelines for management of infants with cystic fibrosis. , 2009, The Journal of pediatrics.
[49] G. Mastella,et al. Failure to thrive: the earliest feature of cystic fibrosis in infants diagnosed by neonatal screening , 1997, Acta paediatrica.
[50] P. Camargos,et al. Prevalence of hyponatremia at diagnosis and factors associated with the longitudinal variation in serum sodium levels in infants with cystic fibrosis. , 2012, The Journal of pediatrics.
[51] B. Tümmler,et al. Nasal potential difference measurements in diagnosis of cystic fibrosis: an international survey. , 2014, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.
[52] P. Farrell,et al. New challenges in the diagnosis and management of cystic fibrosis. , 2015, The Journal of pediatrics.
[53] C. Clavel,et al. CFTR genotypes in patients with normal or borderline sweat chloride levels , 2003, Human mutation.
[54] P. Lebecque,et al. Phenotypic characterisation of patients with intermediate sweat chloride values: towards validation of the European diagnostic algorithm for cystic fibrosis , 2009, Thorax.
[55] G. Cutting,et al. The diagnosis of cystic fibrosis: a consensus statement. Cystic Fibrosis Foundation Consensus Panel. , 1998, The Journal of pediatrics.
[56] L. Naehrlich,et al. Intestinal current measurement versus nasal potential difference measurements for diagnosis of cystic fibrosis: a case–control study , 2014, BMC Pulmonary Medicine.
[57] O. Ronen,et al. Prevalence of rhinosinusitis among atypical cystic fibrosis patients , 2011, European Archives of Oto-Rhino-Laryngology.
[58] A. Tluczek,et al. Psychosocial Consequences of False-Positive Newborn Screens for Cystic Fibrosis , 2011, Qualitative health research.
[59] N. Derichs,et al. New clinical diagnostic procedures for cystic fibrosis in Europe. , 2011, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.
[60] L. Curnow,et al. Markedly elevated neonatal immunoreactive trypsinogen levels in the absence of cystic fibrosis gene mutations is not an indication for further testing , 2005, Archives of Disease in Childhood.
[61] R. Koscik,et al. Psychosocial Risk Associated With Newborn Screening for Cystic Fibrosis: Parents’ Experience While Awaiting the Sweat-Test Appointment , 2005, Pediatrics.
[62] J. Nick,et al. Diagnosis of Cystic Fibrosis in Nonscreened Populations , 2017, The Journal of pediatrics.
[63] C. Thauvin-Robinet,et al. Measurement of nasal potential difference in young children with an equivocal sweat test following newborn screening for cystic fibrosis , 2010, Thorax.
[64] P. Hodgkins,et al. Cystic fibrosis in young children: A review of disease manifestation, progression, and response to early treatment. , 2016, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.
[65] A. Hamosh,et al. Comparison of the clinical manifestations of cystic fibrosis in black and white patients. , 1998, The Journal of pediatrics.
[66] J C Olsen,et al. A novel mutation in the cystic fibrosis gene in patients with pulmonary disease but normal sweat chloride concentrations. , 1994, The New England journal of medicine.
[67] C. Castellani,et al. Inconclusive Diagnosis of Cystic Fibrosis After Newborn Screening , 2015, Pediatrics.
[68] J. Kai,et al. Parents' responses to receiving sickle cell or cystic fibrosis carrier results for their child following newborn screening , 2014, European Journal of Human Genetics.