Description
Cystic fibrosis is a chronic, progressive disease that primarily affects the respiratory and digestive systems. It is caused by a gene mutation leading to dysfunction of the cystic fibrosis transmembrane conductance regulator (CFTR) protein. While there is no cure for CF, the goals of treatment are to ease the severity of symptoms and slow the progress of the disease. Treatment options may include antibiotics, bronchodilators, mucolytics, and airway clearance techniques to manage respiratory symptoms, as well as pancreatic enzyme replacement therapy and nutritional support to manage digestive symptoms. Gene and small molecule-based treatments are being researched and may have more potential to halt disease progression. A multidisciplinary team of specialists is typically involved in the management of CF, including respiratory therapists, dietitians, and social workers
Résumé
- Cystic Fibrosis (CF) is a life-limiting, autosomal recessive disease impacting multiple systems, notably the lungs and gastrointestinal tract. It's more prevalent in Western populations, less common in India and Africa. The disease stems from a mutation in the CFTR gene, which affects chloride and water transport across cell membranes.
- Historically, CF recognition was slow, evolving from folklore associating salty skin with bewitchment to Dorothy Anderson's 1938 identification of pancreatic duct obstruction. A key diagnostic breakthrough was the discovery of elevated sweat chloride levels in dehydrated CF patients during a New York heatwave.
- CF affects organ function through mucus build-up, causing lung infections, malabsorption due to blocked pancreatic ducts, and constipation from excessive water reabsorption in the colon. Symptom presentations vary with age, from meconium ileus in infants to chronic lung disease and reproductive issues in adults.
- Diagnosis relies on clinical features like chronic lung infections, digestive issues, a positive sweat chloride test, and genetic mutation identification. Sweat tests measure salt concentration in sweat, with levels above 60 mmol/L suggesting CF.
- Management requires a multidisciplinary approach involving pulmonologists, gastroenterologists, dieticians, and respiratory therapists. Key strategies include airway clearance techniques, inhaled medications, antibiotic treatment for infections, and nutritional support, notably enzyme replacement therapy and high-calorie, high-fat diets.
- Research continues to focus on gene therapy and CFTR modulator therapies, though challenges remain. Psychosocial support and education are crucial for patients and families due to the disease's significant impact. Preventing hospital-acquired infections and encouraging vaccinations are essential for improving quality of life.
- Despite CF's challenges, examples like Eva Markvoort and Nathan Charles demonstrate that individuals can live fulfilling lives with proper management and determination. The focus should be on early diagnosis, comprehensive care, and psychosocial support to improve patient outcomes.
Exemple de certificat
À propos des intervenants
Dr Siva Kumar Reddy
MD,DM,EDIC Consultant principal et directeur du département de médecine de soins intensifs
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