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Diagnosis and treatment of cystic fibrosis. An update
Insights
Cystic fibrosis (CF) is a common inherited disease causing progressive lung disease and other issues. Diagnosis involves a sweat test, identifying chronic obstructive pulmonary disease and pancreatic insufficiency.
Area of Science:
- Medical Genetics
- Pulmonology
- Gastroenterology
Background:
- Cystic fibrosis (CF) is the most prevalent fatal inherited disorder among Caucasians.
- It significantly impacts individuals within their first three decades, presenting challenges for pediatricians, internists, and chest physicians.
- CF is characterized by chronic progressive pulmonary disease, pancreatic insufficiency, and elevated sweat electrolytes.
Purpose of the Study:
- To provide a comprehensive overview of cystic fibrosis (CF).
- To detail diagnostic criteria and ancillary features.
- To emphasize current treatment strategies and potential complications.
Main Methods:
- Diagnosis relies on a triad: chronic obstructive pulmonary disease, pancreatic insufficiency, and increased sweat electrolytes.
- The sweat test serves as a cardinal diagnostic confirmation.
- Ancillary features like nasal polyposis, Pseudomonas aeruginosa in sputum, and azoospermia aid diagnosis.
Main Results:
- Over 80% of CF patients experience pancreatic insufficiency, leading to malabsorption.
- Common complications include sinusitis, nasal polyposis, biliary cirrhosis, cholelithiasis, and diabetes mellitus.
- Gastrointestinal obstructions (meconium ileus, fecal impaction) and reproductive issues (azoospermia, reduced fertility) are significant.
Conclusions:
- Cystic fibrosis (CF) necessitates a multidisciplinary approach, emphasizing pulmonary disease management.
- Early diagnosis and management of complications are crucial for improving patient outcomes.
- Despite its chronic and fatal nature, advancements in treatment offer hope for managing CF and its associated psychosocial challenges.
Abstract:
Cystic fibrosis is the most common fatal inherited disease of Caucasians. At present, cystic fibrosis accounts for most cases of chronic progressive pulmonary disease and for many other clinical features in the first three decades of life. Thus, it is a challenge to both pediatricians and internists, particularly chest physicians. The diagnosis is based on the triad of chronic obstructive pulmonary disease, pancreatic insufficiency, and increased levels of electrolytes in the sweat. The cardinal test for confirmation of the diagnosis is the "sweat test," which is an excellent discriminant for cystic fibrosis, even in adults. Ancillary features of cystic fibrosis may be of diagnostic assistance (eg, nasal polyposis, Pseudomonas aeruginosa in sputum, azoospermia, and others). Treatment of the pulmonary disease must be emphasized. Choice of antibiotics should be based on the results of sputum culture, but P aeruginosa is the most common pathogen. Removal of secretions by regular postural drainage and percussion is an integral part of the program. Pneumothorax, massive hemoptysis, cor pulmonale, and other complications may be encountered. Sinusitis is almost universal, and nasal polyposis is frequently present. Pancreatic insufficiency occurs in over 80 percent of the patients with cystic fibrosis and may result in intestinal malabsorption. Massive salt loss through the sweat in hot weather, a distinctive type of biliary cirrhosis without jaundice, gallbladder abnormalities, cholelithiasis, and diabetes mellitus also may be found. Of special importance are intestinal obstructive complications (meconium ileus in newborn infants with cystic fibrosis and intestinal obstruction due to fecal accumulation or intussusception in adults). Azoospermia is present in 95 percent of men and there is reduced fertility in women; however, pregnancy does occur in cystic fibrosis. This chronic and ultimately fatal disease produces a predictable set of psychosocial complications.