Cystic Fibrosis

Twenty-eight patients with cystic fibrosis, who survived to over 18 years of age are reported. The ages at the time of diagnosis ranged from two and a half months to over 21 years. Manifestations of cystic fibrosis in adults and youngsters are compared and contrasted.
A review of the patients surviving shows that steatorrhea is under control. There is no evidence of biliary cirrhosis in any of these patients. Rectal prolapse has not been an important factor. Pseudomonas and Staphylococci were the major infecting organisms causing lung disease. Two-thirds of the patients do not use prophylactic antibiotics and one-third do not practice regular pulmonary care.
Two female patients died; one of Pseudomonas lung infection and respiratory failure, after a pregnancy that was carried to term (live baby); one, of respiratory failure, also with severe Pseudomonas respiratory tract infection, two years after a pregnancy that was terminated in the first trimester.     

Cystic Fibrosis in Adults

The aim of this cross-sectional retrospective study was to describe clinical and functional characteristics and the microbiological profile of an adult population with cystic fibrosis. The study was performed at the Pulmonary Diseases Service of the Hospital of the Medical School of the State University of Campinas. The charts of 54 adults (27 males, 27 females) with cystic fibrosis were reviewed. Demographic, clinical, and microbiological data were collected. Clinical and functional characteristics of patients with chronic Pseudomonas infection were compared with those without it. The mean age of the patients was 41.8 years and the mean sweat chloride concentration was 106.4 mEq/L. Forty-nine percent had chronic respiratory symptoms only after 18 years of age, and 85% reported chronic production of purulent sputum. Six percent had diarrhea or fat in stools, and no patient suffered from diabetes mellitus. Pseudomonas was present in 48%, and 73% of them had the mucoid strain. Others agents found were Staphylococcus aureus (28%), Hemophylus sp. (34%), Aspergillus sp. (22%), Stenotrophomonas maltophilia (9%), Acinetobacter sp. (7%), and Burkholderia cepacia (2%). Nontuberculous mycobacteria were found in sputum from 9 patients (11%); 34 patients (67%) had obstructive ventilatory defect; and 47% had obstruction and restriction. Concerning the groups with and without Pseudomonas colonization, only the values of sweat chloride were significantly higher in chronic colonized patients. Less severe phenotypes of cystic fibrosis may be found among patients previously diagnosed as having bronchiectasis. Chronic colonization with Pseudomonas aeruginosa in this study was not associated with worse clinical status but colonized patients did show significantly higher levels of chloride in sweat. Presented in part at the 28th European Cystic Fibrosis Conference, Crete, Greece, 22–25 June 2005     

Macrolides in Cystic Fibrosis

A spectrum of anti-inflammatory properties, evidence of anti-infective action against Pseudomonas aeruginosa at sub-inhibitory concentrations and positive clinical experience in patients with diffuse panbronchiolitis, a disease with features in common with cystic fibrosis (CF), has prompted research to evaluate the role of macrolide therapy in patients with CF. Newer macrolides such as azithromycin have the advantage of improved tolerability and a prolonged intracellular half-life requiring an infrequent dosing regimen.Results from initial studies suggest a benefit from several months of macrolide therapy in patients with CF. An improvement in lung function was initially shown in a small open study in children, while maintenance of lung function compared with placebo, reduced acute respiratory exacerbations, and reduced systemic markers of inflammation were demonstrated in a randomized, placebo-controlled study of macrolide therapy in adult patients with CF.Additional controlled studies are required to determine optimal drug, dosage, and duration of therapy, and long-term adverse effects of prolonged therapy with macrolides in patients with CF. The potential, with long-term use, to induce resistance against other bacteria colonizing the upper respiratory tract e.g. pneumococci has not been explored.Measurement of cytokines and inflammatory mediators from the sputum of patients with CF is technically difficult and does not correlate with disease activity. There is a need for easily measurable, reproducible and clinically meaningful end-points for evaluation of new therapies in CF. The choice of appropriate outcome measures, apart from lung function, to monitor disease activity needs careful consideration in clinical trials determining the efficacy of macrolides in patients with CF.Evidence-based recommendations for the use of macrolides in the treatment of CF are not expected for some years although macrolides are already being prescribed for long-term use in some centers. There is a need for further research into mechanisms of anti-inflammatory action of macrolides in the lungs of patients with CF and whether or not such therapy may be beneficial in the long term.     

Pancreas and Cystic Fibrosis: The Implications of Increased Survival in Cystic Fibrosis

Pancreatitis affects 0.5% people with cystic fibrosis (CF) in the UK and 0.01% of the normal population. Why do some with CF get pancreatitis and some not? And does pancreatitis in neonates result in pancreatic failure with no further inflammation or risk of pancreatic cancer? Review of the literature would suggest that 85% of those with CF have pancreatic destruction as children with minimal risk of further inflammatory or neoplastic changes. Those with a functioning pancreas are at risk of developing pancreatitis. There are several case series of pancreatic cancer reported in CF patients, but overall the risk is unknown. As patients with CF and pancreatic sufficiency are living longer, further studies to assess the riskof developing pancreatic cancer in this subgroup should be considered.     

Gastrointestinal Manifestations of Cystic Fibrosis

Gastrointestinal symptoms of cystic fibrosis are the most important non-pulmonary manifestations of this genetic illness. Pancreatic manifestations include acute and chronic pancreatitis as well as pancreas insufficiency resulting in malnutrition. Complications in the gastrointestinal lumen are diverse and include distal intestinal obstruction syndrome (DIOS), meconium ileus, intussusception, and constipation; biliary tract complications include focal biliary cirrhosis and cholangiectasis. The common pathophysiology is the inspissation of secretions in the hollow structures of the gastrointestinal tract. Improved survival of CF patients mandates that the adult gastroenterologist be aware of the presentation and treatment of pancreatic, luminal, and hepatobiliary CF complications.