Editorial
Can manifesting heterozygotes have cystic fibrosis?
| The first 150 words of the full text of this article appear below. |
Scientific advances and the passage of time are causing us to
review what constitutes a diagnosis of cystic fibrosis (CF). Over and
above those with a typical presentation and laboratory findings, there
have always been patients who fall in the grey area
"does she or
doesn't she have CF?" Since the discovery of the CFTR gene in 1989 and the ongoing discovery of mutations associated with CF (the mutation
count now stands at over 800), genetic analysis has brought a new
sophistication to the area but has not solved all the problems. A
consensus conference on diagnostic criteria arranged by the North
American Cystic Fibrosis Foundation has published the agreed
criteria.1 In addition to those with typical features
(sweat chloride levels above 60 mmol/l and the finding of two
mutations of CFTR known to be associated with the disease), the
consensus statement admits that approximately 2% have an atypical phenotype with chronic
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