Analysis of most common CFTR mutations in patients affected by nasal polyps.

Nasal polyps, a chronic inflammatory disease occurring in the nose and para-nasal sinuses, result from several different causes, including cystic fibrosis (CF). Forty-four patients affected by nasal polyps were admitted to the Department of Otolaryngology, Lublin University School of Medicine, Lublin, Poland, and screened for the most-commonly identified CFTR mutations [DeltaF508, G542X, N1303 K, 1717-1 (G to A), W1282X, G551D, R553X and DeltaI507] by applying the INNO-LIPA CF2 test strips. None of the patients had symptoms that allowed for the diagnosis of CF, including the negative sweat test.

A clinical perspective of cystic fibrosis and new genetic findings: relationship of CFTR mutations to genotype-phenotype manifestations.

The present report describes several aspects of the relationship of mutations in the cystic fibrosis (CF) transmembrane conductance regulator (CFTR) gene to phenotype expression of the disease including several clinical vignettes from the authors' experience. The genotype-phenotype relationships in CF are complex, and are affected by many factors, including pollution, smoking, bacterial infection, malnutrition, and certain therapeutic agents. The number of CFTR mutations is growing continuously and rapidly, and more than 1,000 mutations have been discovered so far.

CFTR gene mutations in patients suffering from acute pancreatitis.

Background: The aim of our study was to investigate the frequency of the CFTR gene mutation in a selected group of patients suffering from severe acute pancreatitis.

Material/methods: DNA isolated from peripheral blood samples from forty-one subjects was analyzed for the eight most common CFTR gene mutations (deltaF508, G542X, G551D, R553X, 1717-1(G>A), W1282X, N1303K, deltaI507) by the reverse-hybridization technique, using INNO-LIPA CF2 test strips. The level of chloride ions in sweat samples was established using the pilocarpine iontophoresis method.