Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation consensus report.
Newborn screening (NBS) for cystic fibrosis (CF) is increasingly being implemented and is soon likely to be in use throughout the United States, because early detection permits access to specialized medical care and improves outcomes. The diagnosis of CF is not always straightforward, however. The sweat chloride test remains the gold standard for CF diagnosis but does not always give a clear answer. Genotype analysis also does not always provide clarity; more than 1500 mutations have been identified in the CF transmembrane conductance regulator (CFTR) gene, not all of which result in CF. Harmful mutations in the gene can present as a spectrum of pathology ranging from sinusitis in adulthood to severe lung, pancreatic, or liver disease in infancy. Thus, CF identified postnatally must remain a clinical diagnosis. To provide guidance for the diagnosis of both infants with positive NBS results and older patients presenting with an indistinct clinical picture, the Cystic Fibrosis Foundation convened a meeting of experts in the field of CF diagnosis. Their recommendations, presented herein, involve a combination of clinical presentation, laboratory testing, and genetics to confirm a diagnosis of CF.
Farrell
Philip M
PM
Department of Pediatrics and Population Health Sciences, University of Wisconsin School of Medicine and Public Health, Madison, WI, USA.
Rosenstein
Beryl J
BJ
White
Terry B
TB
Accurso
Frank J
FJ
Castellani
Carlo
C
Cutting
Garry R
GR
Durie
Peter R
PR
Legrys
Vicky A
VA
Massie
John
J
Parad
Richard B
RB
Rock
Michael J
MJ
Campbell
Preston W
PW
D000328:Adult; D000367:Age Factors; D002712:Chlorides / Q000032:analysis; D003550:Cystic Fibrosis / Q000175:diagnosis* / Q000453:epidemiology / Q000517:prevention & control*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics; D004252:DNA Mutational Analysis; D003627:Data Interpretation, Statistical; D005582:Foundations / Q000592:standards*; D005820:Genetic Testing / Q000379:methods / Q000592:standards*; D006801:Humans; D007231:Infant, Newborn; D015997:Neonatal Screening / Q000379:methods / Q000592:standards*; D011237:Predictive Value of Tests; D012016:Reference Values; D013542:Sweat / Q000737:chemistry
D002712:Chlorides; D019005:Cystic Fibrosis Transmembrane Conductance Regulator