Pamela B. Davis

Cystic fibrosis in adults. 75 cases and a review of 232 cases in the literature.

Abstract Cystic fibrosis is now the most common cause of chronic obstructive pulmonary disease (COPD) and of pancreatic insufficiency in the first three decades of life in the United States. In this report we describe 75 patients with cystic fibrosis aged 18 to 47 years and review another 232 cases reported in the literature. All of these 307 patients had elevated sweat chloride and sodium levels, which proved excellent discriminants for cystic fibrosis even in patients in the older age group. COPD, present in 97 per cent, was the major cause of morbidity and mortality, and differed from COPD of other etiologies. The progressive downhill course in these patients was punctuated by recurrent symptomatic exacerbations of chronic bacterial bronchitis caused by Pseudomonas aeruginosa and Staphyloccocus aureus, and terminated in pulmonary insufficiency, cor pulmonale and death. COPD was complicated by minor hemoptysis in 60 per cent, massive hemoptysis in 7 per cent and pneumothorax in 16 per cent, problems rare in children. Sinusitis was present in all those examined roentgenographically, and 48 per cent had nasal polyposis. Pancreatic insufficiency was present in 95 per cent of the patients, but in contrast to younger patients it was seldom symptomatic although steatorrhea and azotorrhea were still massive. Intussusception and meconium ileus equivalent (fecal accumulation) are frequent in adults (21 per cent) but rare in children, and they require immediate diagnostic and therapeutic intervention with enemas of diatrizoate sodium. Glycosuria, biliary cirrhosis, cholelithiasis and aspermia were among other complications. Height and weight were usually within the lower limits of normal, but 17 per cent of the men were above 180 cm in height and 7 per cent were overweight. Therefore, a high index of suspicion is needed to make the diagnosis, because older patients with cystic fibrosis may look quite well.

Low sweat electrolytes in a patient with cystic fibrosis

A patient with the clinical syndrome of cystic fibrosis characterized by chronic pulmonary disease, infection with mucoid Pseudomonas aeruginosa, sinusitis, nasal polyposis, abnormal pancreatic bicarbonate response to secretin stimulation, but normal levels of trypsin and chymotrypsin in the duodenal drainage, and a sibling with autopsy-documented cystic fibrosis, is described. Sweat chloride ranged from 20 to 44 meq/liter and sweat sodium from 36 to 55 meq/liter. Immunoglobulin deficiency, alpha 1-antitrypsin deficiency, tuberculosis and abnormalities of ciliary ultrastructure were excluded. Review of sweat electrolytes in 213 patients with cystic fibrosis revealed that patients with normal pancreatic enzyme release have significantly lower sweat sodium and chloride concentrations (p < 0.0005) than do patients with pancreatic insufficiency. Chronic pulmonary disease, pancreatic insufficiency and elevated levels of sweat electrolytes comprise the classic diagnostic triad for cystic fibrosis. The expression of these features may be variable, but the sweat test remains the cardinal laboratory confirmation of the diagnosis. Over 98 percent of patients with cystic fibrosis have sweat chloride values greater than 60 meq/liter, 1 to 2 percent between 50 and 60 meq/liter, and only about one in 1,000, like our patient, less than 50 meq/liter. Patients with cystic fibrosis with borderline sweat chloride values frequently have chronic pulmonary disease but intact pancreatic enzyme release. In such patients, family history, ancillary clinical features and systemic exclusion of other syndromes assume special diagnostic importance.

Evolution of therapy for cystic fibrosis

Thirty years ago, a treatment program for patients with cystic fibrosis was laid out that emphasized combating pulmonary infection, improving bronchial drainage, and attending to nutrition1. This s...

CYSTIC FIBROSIS FROM BENCH TO BEDSIDE

The highest goal of biomedical bench research is to translate test-tube discoveries into real-world benefits for patients. The extraordinary advances in research on cystic fibrosis in the past 10 y...

Electrolytes and norepinephrine levels in blood of patients with cystic fibrosis

Young adults with cystic fibrosis in good to excellent condition have reduced plasma sodium and chloride and elevated plasma potassium compared to a group of healthy young adult control subjects. Blood pressure was also lower in the patients with cystic fibrosis. However, plasma norepinephrine and dopamine-beta-hydroxylase and their response to standing and isometric hand grip were normal in the cystic fibrosis patients.