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.

Detection of CFTR gene mutations in patients suffering from chronic bronchitis.

Background: The purpose of the study was to examine cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in patients suffering from chronic bronchitis.

Methods: Thirty-two patients admitted to the Department of Pulmonology, Lublin School of Medicine, Lublin, Poland between 1995 and 1996 due to chronic bronchitis were included in the study. Patients were analyzed for the eight most common mutations of the CFTR gene (DeltaF508, G542X, N1303K, 1717-1(GoA)), W1282X, G551D, R553X, and DeltaI507 by the reverse-hybridization method.

[Gene therapy perspectives in cystic fibrosis].

Cystic fibrosis (CF) is a frequent autosomal recessive genetic disease. The isolation of the gene at the CF locus assigned to the long arm of chromosome 7 band q 31 and defining description of its protein named CFTR (cystic fibrosis transmembrane conductance regulator) promoted understanding the basic biochemical defect. Brief review of relevant literature demonstrates that glycoprotein CFTR is a chloride channel and is activated by a combination of phosphorylation by protein kinase A and binding of ATP.

New perspectives and hope for cure-reflecting recent genetic developments in cystic fibrosis.

The isolation of cystic fibrosis gene at the CF locus assigned to the long arm of chromosome 7 band q31 and definition of its protein product named CFTR (cystic fibrosis transmembrane conductance regulator) permits to understand the basic defect in this inherited disorder known as cystic fibrosis (CF) or mucoviscidosis. A variety of mutations of CF gene was revealed and the most common, a deletion of the 3 nucleotides that encode phenylalanine (Delta F508) with the variable incidence among the different ethnic groups of CF patients was delineated. CF is a variable disease and genetic testing can be useful to explain this variation but to date the phenotype-genotype correlation is not clarified.

Prolactin action in cystic fibrosis.

The pathophysiology of cystic fibrosis (CF), the secretory properties of CF cells and conductance studies of CF cells and membranes suggest that the basic defect of CF is an abnormality of regulation affecting a broad spectrum of functions. Prolactin (PRL) was proposed as the putative regulatory factor, because the multifarious activities of PRL, especially the well documented osmo- and electrolyte regulatory effects, can be related to all of the symptoms of CF. These include salt loss in sweat, abnormal mucus production, impaired intestinal digestion and absorption, male infertility, delayed puberty, failure to thrive, etc.

Different glycosylation of human prolactin in cystic fibrosis patients.

1. The elevated (Cl) of sweat from cystic fibrosis (CF) skin reverted to normal after the skin had been grafted onto immunoincompetent, congenitally athymic mice [N'NIH(S)-NU]. 2.

Chronic dialysis in a patient with cystic fibrosis.

To our knowledge this is the first case reported in the literature of a patient with cystic fibrosis and end-stage renal disease, who was on dialysis for 2 years. We discuss here the possible mechanisms responsible for what has been called 'the cystic fibrosis nephropathy' and its consequences.

Scintigraphic evidence for relief of airways obstruction in cystic fibrosis.

A simple scheme for quantifying lung perfusion scintigrams was developed to evaluate the efficacy of a therapeutic regimen for the relief of airways obstruction in cystic fibrosis patients. Ten hospitalized patients were given conventional therapy including administration of intravenous antibiotics, mucolytic aerosols, chest physical therapy, and adequate nutrition and hydration as adjuncts to a single bronchoscopic bronchial washing procedure. Quantitative scoring of the lung scintigram was based upon the severity of the perfusion defects in equivalent upper and lower lung fields, as viewed from right and left posterior oblique projections.

Factors influencing pseudomonas colonization in cystic fibrosis.

In order to assess the relationship between various factors influencing Pseudomonas (Ps) colonization of the respiratory tract of patients with cystic fibrosis (CF) and the appearance of various strains of Ps, two groups of CF patients were studied during a 5-year period. Group A consisted of 24 Ps-negative patients, and Group B consisted of 32 Ps-positive patients, including eight patients who expired. Several clinical and laboratory parameters were evaluated.

The sweat chloride concentration and prolactin activity in cystic fibrosis.

The purpose of this study was to elucidate the possible relationship between defective PRL and elevated sweat Cl in CF patients. Full thickness human skin was grafted onto the back of immunoincompetent, nude congenitally athymic mice. This study indicated: 1) that when skin from CF patients with high sweat chloride concentrations was grafted, the chloride concentration of sweat from the grafts was the same as of sweat from grafts of normal skin; and 2) that administration of anti-hPRL to the mice bearing the CF grafts did not increase the chloride concentration of the sweat as it had in normal skin grafts.

Pseudomonas colonization in cystic fibrosis. A study of 160 patients.

We investigated the role of Pseudomonas aeruginosa colonization in the respiratory tracts of cystic fibrosis (CF) patients to relate the effect of this colonization to progression of bronchial airway pathologic conditions and to the patients' clinical progress, and to identify predisposing factors to persistence of P aeruginosa colonization and bronchial tree damage. Half of 160 CF patients studied had persistent P aeruginosa respiratory tract colonization; the other half had none. Pseudomonas aeruginosa seems to have an exclusive propensity for the respiratory tract and may appear at any age.