New tests for cystic fibrosis.
Most patients presenting with symptoms and signs of CF are still diagnosed on the basis of a sweat test. CFTR mutation analysis is useful in confirming the diagnosis, screening family members, newborn screening programmes and in those with borderline or normal sweat tests with a high index of suspicion. Nasal PD can also be helpful in the latter group, although there are a number of caveats to its use and interpretation.
Davies
Jane C
JC
Department of Gene Therapy, Imperial College, London, UK. j.c.davies@imperial.ac.uk
D015415:Biomarkers / Q000378:metabolism*; D003550:Cystic Fibrosis / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics / Q000378:metabolism; D004247:DNA / Q000032:analysis; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D005243:Feces / Q000201:enzymology; D006801:Humans; D009154:Mutation; D010196:Pancreatic Elastase / Q000378:metabolism; D013542:Sweat / Q000737:chemistry; D014357:Trypsin / Q000097:blood / Q000276:immunology
D015415:Biomarkers; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004247:DNA; D010196:Pancreatic Elastase; D014357:Trypsin