Cystic fibrosis]

Cystic fibrosis (CF), the most common life-threatening autosomal recessive disorder in Causcasian populations, is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene on chromosome 7, which encodes a protein that functions as a chloride channel in the apical membrane of epithelial cells. The clinical manifestations comprise recurrent and chronic bronchopulmonary infections, pancreatic insufficiency, and hidrotic salt depletion. Such complications as diabetes, cirrhosis, and respiratory insufficiency develop, resulting in death in the absence of lung transplantation. Treatment is aggressive and comprehensive from the time of diagnosis. Early and intensive treatment of bacterial colonisation and lung infection is correlated with improved prognosis, and monthly follow-up at a CF Centre is mandatory. Mean survival among CF patients at the Danish CF Centre i Copenhagen is more than 40 years. Clinical trials of gene therapy are under way, but results to date have been disappointing.     

Cystic fibrosis in adolescent patients

Summary--An autopsy observation of mucoviscydosis in a female who died at the age of 17 with a prevalent affection of the bronchopulmonary system is reported. Pronounced cystic fibrosis with atrophy and lipomatosis of the pancreas was found. The cause of death was respiratory failure in spite of intensive antibacterial therapy. Bullous emphysema with frequent pneumothorax in adults with this disease considerably worsens the prognosis and requires urgent therapy which in this case was not conducted because of late hospitalization.     

Cystic fibrosis: current concepts

Cystic fibrosis (CF), a common fatal genetic disease, is a multisystem disorder whose pathogenesis has recently been linked to defects in CFTR, a newly discovered protein. CFTR is a molecular channel which controls chloride concentration in secretions of the sweat glands and the respiratory, GI, and reproductive tracts. Defective forms of CFTR, arising from various mutations in its gene, are responsible for the inadequate hydration of mucus, pancreatic juice, and other exocrine secretions. The result is dysfunction of the lungs, pancreas, and other involved organs. This article describes the diagnosis, clinical features, and approach to management of CF.     

Cystic fibrosis in an elderly woman

Cystic fibrosis (CF) is thought of by most physicians as a disease of children. Advances in therapy have extended the life span of patients so that many pulmonary internists have responsibility for the care of young adults with CF. Nevertheless, the initial diagnosis of CF after the age of 30 years is unusual, and a diagnosis after the age of 60 years is rare. Such a case is reported here.     

Cystic fibrosis: present and future

Cystic fibrosis (CF) is an inherited disorder of epithelial chloride transport affecting primarily pancreas, lungs, gut, liver and exocrine glands. The defect is caused by defects of the cystic fibrosis transmembrane regulation gene on chromosome 7. Genotyping has proved useful in identifying gene carriers, a definitive diagnosis, and in antenetal diagnosis. Genotype/phenotype relationships have shown that the commonest cause of pancreatic insufficiency is the D F508 mutation. Clinical trials are exploring the use of somatic gene therapy but this is not yet a viable treatment option. Liver, lung and intestinal disease result in malnutrition which causes further dysfunction of these organs. Aggressive nutritional and pancreatic enzyme therapy results in improved disease, normal growth and increased survival. However, high-dose enzyme therapy may in some individuals cause a fibrosing colonopathy. For those with end-stage liver and lung disease, transplantation holds out some hope.     

Cystic fibrosis. Gastrointestinal complications and gene therapy

The gastrointestinal and nutritional complications of cystic fibrosis are diverse. As longevity improves in patients with cystic fibrosis, management of these complications is becoming increasingly important . This article provides overviews of the molecular aspects of the pathogenesis of cystic fibrosis, the current status of gene therapy, and a review of the gastrointestinal manifestations and nutritional care.     

Cystic fibrosis in Malay children--a report of three cases

A staining device for sectioned material supported on grids for viewing at the Transmission Electron Microscope is described. The method based in a double side sticky tape is inexpensive, rapid and clean. By using only pipettes and a double side sticky tape the best solution to the tedious problems of sections staining is obtained. The tape is discarded and the staining solution too. Precipitates have not been observed.     

Cystic fibrosis: a disease of altered protein folding

Patch clamp technique was employed to record single Na channel currents in isolated guinea-pig ventricular myocytes. Burst mode could be elicited by step depolarization and terminates immediately after repolarization. The unitary current of burst mode was not only dependent on Na concentration in the pipettes but also on the test voltage. The open time constant increased as testing voltage becomes more positive. The results from stepwise-depolarization and ramp depolarization experiments showed that the more steps or the faster the upstroke velocity of depolarization used, the more the burst mode would occure.     

Cystic fibrosis: a system for assessing and predicting progression

Renal lymphoma has a broad spectrum of imaging manifestations. Typical patterns of renal lymphoma include multiple renal masses, solitary masses, diffuse infiltration, and invasion from contiguous retroperitoneal disease. Isolated perirenal disease is probably the most atypical form of renal lymphoma and has a variety of appearances, including small curvilinear densities and soft-tissue nodules or plaques. In general, the CT diagnosis of renal lymphoma is not difficult because most patients already have a known diagnosis of lymphoma. Nevertheless, it is important to be familiar with both the typical and the atypical manifestations of renal lymphoma because numerous disease processes, normal variants, and artifacts may potentially mimic renal lymphoma.     

Cystic fibrosis: effects of serum factors on mucus secretion

The effects of serum from children with cystic fibrosis and from normal children on the mucus-secreting, ciliated epithelium have been investigated in vitro using explanted tissue from rabbit lung. By optical and scanning electron microscopy, a sequence of structural changes is observed after incubation with cystic fibrosis serum; this sequence does not occur with normal serum. The earliest changes involve swelling of the goblet cells, with subsequent discharge of mucus onto the epithelial surface. This is followed by disruption of the normally rapid and synchronized ciliary activity. Mucus gradually extends over the surface entangling cilia. Finally, some shedding of ciliated cells occurs from the epithelium. These findings suggest that factors in cystic fibrosis serum cause discharge of mucus leading to a disturbance of the normal ciliary activity in the rabbit lung. It is postulated that such changes result in dysfunction of the mucociliary clearance mechanism and that this dysfunction may be a contributory factor to the pathogenesis of lung disease.     

Cystic fibrosis screening by sweat analysis: a critical review of techniques

Currently employed methods for the assay of electrolytes in sweat, relevant to the diagnosis of cystic fibrosis, are critically evaluated with particular reference to the measurement of electrical conductivity. Attention is drawn to the factors responsible for potentially large errors. On the basis of experimentation, supported by laboratory practice, recommendations are made for the reduction of these errors to clinically acceptable levels. Data concerning sodium and potassium content, electrical conductivity and osmolality of undiluted sweat collections are compared. The feasibility and comparative advantages of measuring sweat osmolality with a vapour pressure osmometer are discussed.