Uncertainty in the diagnosis of cystic fibrosis: Possible role of in vivo nasal potential difference measurements
| Autor: | Michael R. Knowles, Wan F. Ip, David Wilson, Lynda Ellis, Peter R. Durie, Elizabeth Tullis, Julian Zielenski, Lap-Chee Tsui, Mary Corey |
|---|---|
| Rok vydání: | 1998 |
| Předmět: |
medicine.medical_specialty
Pathology Pancreatic disease biology medicine.diagnostic_test business.industry Respiratory disease medicine.disease Gastroenterology Cystic fibrosis Cystic fibrosis transmembrane conductance regulator medicine.anatomical_structure In vivo Internal medicine Pediatrics Perinatology and Child Health medicine biology.protein business Nose Sweat test Transepithelial potential difference |
| Zdroj: | The Journal of Pediatrics. 132:596-599 |
| ISSN: | 0022-3476 |
| DOI: | 10.1016/s0022-3476(98)70345-2 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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