Uncertainty in the diagnosis of cystic fibrosis: possible role of in vivo nasal potential difference measurements
DC Wilson, L Ellis, J Zielenski, M Corey, WF Ip… - The Journal of …, 1998 - Elsevier
DC Wilson, L Ellis, J Zielenski, M Corey, WF Ip, LC Tsui, E Tullis, MR Knowles, PR Durie
The Journal of pediatrics, 1998•ElsevierThe diagnosis of cystic fibrosis (CF) is not always certain, despite extensive clinical
evaluation, multiple sweat chloride tests, and genotype analysis. We hypothesized that
nasal transepithelial potential difference measurements have a useful role in this situation.
In 11 patients without an established diagnosis of CF, results of simultaneous nasal potential
difference (PD) and sweat chloride measurements were compared with those from control
subjects, obligate CF heterozygotes, and patients with a confirmed diagnosis of CF. Two …
evaluation, multiple sweat chloride tests, and genotype analysis. We hypothesized that
nasal transepithelial potential difference measurements have a useful role in this situation.
In 11 patients without an established diagnosis of CF, results of simultaneous nasal potential
difference (PD) and sweat chloride measurements were compared with those from control
subjects, obligate CF heterozygotes, and patients with a confirmed diagnosis of CF. Two …
The diagnosis of cystic fibrosis (CF) is not always certain, despite extensive clinical evaluation, multiple sweat chloride tests, and genotype analysis. We hypothesized that nasal transepithelial potential difference measurements have a useful role in this situation. In 11 patients without an established diagnosis of CF, results of simultaneous nasal potential difference (PD) and sweat chloride measurements were compared with those from control subjects, obligate CF heterozygotes, and patients with a confirmed diagnosis of CF. Two patients conformed to the PD profile for CF patients, whereas nine had values corresponding to those of the healthy control subjects. Subsequently the 5-thymidine (IVS8-5T) CF gene variant was identified in the two patients with abnormal PD measurements. (J Pediatr 1998;132:596-9)
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