Cystic fibrosis (CF) is a genetic disorder characterized by the production of thick, sticky mucus that accumulates in various organs, primarily affecting the lungs and pancreas.
Patients with CF often experience breathing difficulties, recurrent lung infections, digestive issues, malnutrition, and impaired growth and development.
There is currently no definitive cure for cystic fibrosis, and its symptoms worsen over time. However, advancements in treatment have significantly improved life expectancy. Over the past 40 years, the average life expectancy for CF patients has increased to around 30 years, and with modern therapies, some patients can now live into their 40s or beyond.
Symptoms of Cystic Fibrosis
CF is typically diagnosed at a very young age. Although symptoms may vary from patient to patient, some distinct signs commonly appear in affected children, including:
Intestinal obstruction at birth, preventing the infant from passing the first stool (meconium).
Excessively salty sweat.
Chronic diarrhea.
Growth failure and poor weight gain.
Breathing difficulties.
Recurrent lung infections.
Severe coughing.
Wheezing.
Other symptoms may develop in early childhood, such as:
Clubbing of the fingers, where the fingertips become round and enlarged.
Rectal prolapse, where part of the rectum protrudes through the anus.
Enlarged nasal passages or chronic sinus infections.
Causes and Risk Factors of Cystic Fibrosis
CF is a hereditary disorder, meaning both parents must be carriers of the defective gene for their child to inherit the disease.
Complications of Cystic Fibrosis
Cystic fibrosis can lead to severe complications affecting multiple organ systems, including the respiratory, digestive, and reproductive systems.
Diagnosis of Cystic Fibrosis
CF symptoms typically appear in infancy, and screening tests for the condition are often conducted before symptoms emerge.
If a newborn screening test suggests CF or if an infant presents with symptoms, the sweat chloride test is performed. This test measures salt levels in sweat, as individuals with CF have abnormally high salt concentrations. Two consecutive positive results confirm the diagnosis.
Treatment of Cystic Fibrosis
Although no cure exists, several treatment options are available to enhance quality of life.
Treatment strategies vary depending on the specific health complications experienced by the patient and their response to therapies.
Most patients benefit from a combination of medical treatments and at-home care strategies to alleviate symptoms and prevent complications.
Prevention of Cystic Fibrosis
As a genetic disorder, cystic fibrosis cannot be prevented. However, patients can take measures to reduce the risk of complications, including:
Receiving all recommended vaccinations.
Avoiding smoking and secondhand smoke exposure.
Using airway clearance techniques such as postural drainage and chest physiotherapy.
Following a high-calorie, nutrient-rich diet.
Undergoing regular medical check-ups and strictly adhering to prescribed treatment plans.
Additionally, parents of a newborn diagnosed with CF should provide home-based care and avoid daycare centers for at least six months to one year to minimize infection risks.