Understanding Cystic Fibrosis:
What is Cystic Fibrosis:
- Cystic fibrosis is a genetic disease primarily affecting the airways and gastrointestinal tract.
- It is a chronic condition that tends to worsen with age and requires lifelong management.
Causes of Cystic Fibrosis:
- Cystic fibrosis is caused by a genetic defect in the chloride ion channel gene.
- This defect prevents proper formation of chloride ion channels, leading to thick and tough mucus in various parts of the body.
Symptoms of Cystic Fibrosis:
- Cystic fibrosis primarily affects the airways:
- Coughing, which can be dry or mucous, sometimes with traces of blood.
- Breathing difficulties due to mucus clogging small airways.
- Frequent respiratory and sinus infections, possibly leading to nasal polyps.
- It also affects digestion and nutrient absorption:
- Malnutrition and impaired nutrient uptake.
- Oily, foul-smelling stools that are hard to flush.
- Abdominal pain and recurrent pancreatitis.
Impact on Children Under One Year:
- In newborns, cystic fibrosis can cause:
- Bowel obstruction due to thick first stool (meconium), causing vomiting and tense stomach.
- Bleeding due to lack of fat-soluble vitamin K.
- Yellow skin (jaundice) from bilirubin buildup.
Self-Care for Cystic Fibrosis:
- Physical activity improves lung function and helps loosen mucus.
- Breathing exercises recommended by physiotherapists assist in clearing mucus from the lungs.
- Nutrient-rich foods with vitamin and polyunsaturated fat supplements aid impaired nutrient absorption.
Treatment of Cystic Fibrosis:
- Managed by multi-professional care teams, treatment aims to alleviate symptoms and support an active life.
- While no complete cure exists, current treatments can extend lifespan and quality of life.
- Enzyme supplements are necessary due to pancreatic impairment.
- Antibiotics are often used to treat respiratory infections.
Development of New Treatments:
- Ongoing research is leading to the development of new drugs for cystic fibrosis.
- Some drugs can partially correct the genetic defect, allowing cells to create functional chloride ion channels.
When to Seek Medical Attention:
- Seek medical attention if you suspect cystic fibrosis or experience worsening symptoms.
- In case of breathing difficulties, blood in coughs, stomach pain, or infection, seek care.
- Emergency care is needed for severe breathing difficulties, significant blood in coughs, chest or abdominal pain.