A 4-year-old child is brought to the GP with a history of recurrent chest pain and offensive-smelling stools. On physical examination, finger clubbing is noted. The child’s growth appears slightly below average for age, and the mother mentions that he has frequent respiratory infections. There is no history of recent trauma or injury.
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The most likely diagnosis in this case is cystic fibrosis (CF). Cystic fibrosis is a genetic disorder that affects the exocrine glands, leading to the production of thick and sticky mucus that primarily impacts the lungs, pancreas, and digestive system. This child’s recurrent respiratory infections, finger clubbing, malodorous stools (likely due to malabsorption), and failure to thrive are hallmark signs of cystic fibrosis.
Key clinical features of cystic fibrosis include:
- Chronic respiratory infections (due to thick mucus in the lungs)
- Finger clubbing (a sign of chronic hypoxia)
- Steatorrhea (foul-smelling, greasy stools caused by malabsorption due to pancreatic insufficiency)
- Poor growth and failure to thrive despite adequate appetite
- Persistent cough or wheezing
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The following investigations can confirm cystic fibrosis:
- Sweat chloride test: This is the gold standard for diagnosing cystic fibrosis. Elevated levels of chloride in the sweat (>60 mmol/L) are diagnostic of the condition.
- Genetic testing: Identifying mutations in the CFTR gene can confirm the diagnosis, especially if the sweat test is equivocal.
- Pulmonary function tests: In older children, these can help assess the extent of lung disease. However, this may not be feasible for younger children.
- Stool analysis: To check for pancreatic insufficiency, stool testing for fat content (steatorrhea) or pancreatic enzyme levels can be done.
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There is no cure for cystic fibrosis, but treatment focuses on managing symptoms and slowing disease progression. Treatment involves a multidisciplinary approach, including:
- Chest physiotherapy: Regular chest physiotherapy and postural drainage help to clear mucus from the lungs and reduce the risk of infections.
- Inhaled medications: These include bronchodilators to open the airways and nebulized mucolytics (such as dornase alfa) to thin mucus.
- Antibiotics: Long-term and sometimes prophylactic antibiotics are used to manage and prevent respiratory infections.
- Pancreatic enzyme replacement therapy (PERT): Since pancreatic insufficiency is common, oral pancreatic enzymes are taken with meals to help with digestion and nutrient absorption.
- Nutritional support: High-calorie diets, fat-soluble vitamins (A, D, E, K), and supplements are recommended to support growth.
- CFTR modulators: For certain CFTR mutations, medications like ivacaftor (or combination therapies) can improve chloride transport and reduce disease severity.
Lifelong monitoring and regular follow-up with a specialist cystic fibrosis team are crucial to optimize care and outcomes.
Header image used on licence from Shutterstock
