By Adrian Burton
Special to DG News
NICE, FRANCE — February 20, 2002 — Children and young people with cystic fibrosis who are carriers of class II genotype mutations of the CFTR gene are more likely to have severe pancreatic disease.
Owing to the wide range of CFTR mutations seen in cystic fibrosis patients in southern France, Dr. François Counil and co-workers at the University Hospital of Montpelier-Nimes and the Institute St. Pierre Palavas decided to perform a correlation analysis to identify which genotypes and phenotypes went together.
"The wide range of mutations here provides an opportunity for us to look at the correlation between genotypes and clinical presentation," said Dr. Counil, speaking here yesterday at the Fifth International Congress on Pediatric Pulmonology.
The study involved 102 patients who underwent CFTR mutation analyses on DNA extracted from peripheral blood cells. Phenotypic considerations were clinical picture at diagnosis, bronchiectasis, presence of nasal polyps, pancreatic insufficiency, liver disease, chloride concentration in perspiration, diabetes mellitus, and chronic infection of sputum by Pseudomonas aeruginosa and Staphylococcus aureaus.
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