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PEDIATRICS Vol. 103 No. 4 April 1999, pp. 823-826

EXPERIENCE AND REASON:
Pitfall in the Use of Genotype Analysis as the Sole Diagnostic Criterion for Cystic Fibrosis

Received Apr 9, 1998; accepted Sep 15, 1998.

James F. Chmiel, Mitchell L. Drumm, Michael W. Konstan, Thomas W. Ferkol, and Carolyn M. Kercsmar

Department of Pediatrics Rainbow Babies and Children's Hospital Case Western Reserve University School of Medicine Cleveland, OH 44106

In this report, we present an asymptomatic infant, seen for a second opinion, who was given the diagnosis of cystic fibrosis (CF) as a neonate based on the presence of two mutant alleles, Delta F508 and R117H. The diagnosis of CF adversely affected the family's emotional, employment, and financial statuses. Our evaluation included sweat chloride, nasal transepithelial potential difference, and bronchoscopy with bronchoalveolar lavage measurements, all which were consistent with findings expected from an individual without CF. Genotype analysis for the sequence polymorphism in intron 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene revealed the 7 thymidines and 9 thymidines alleles. We conclude that this patient probably expresses enough epithelial cell surface CFTR function such that she has a normal phenotype. Based on our evaluation, she does not meet the current diagnostic criteria for CF. Although genotype analysis can be an useful adjunct, it should not be the sole diagnostic criterion for CF.

 Key words:  CFTR, genetic testing, phenotype.


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