Cystic fibrosis is a genetic disease that causes thick mucus to build up in the lungs and digestive tract. It is caused by a mutation in the CFTR gene and results in the loss of chloride ion transport. This leads to abnormal sodium and chloride transport, causing thick secretions in the lungs and pancreas. Symptoms include cough, fatigue, infections and difficulty gaining weight in infants. Treatment involves antibiotics, airway clearance techniques, and gene therapy. Complications can affect the respiratory and digestive systems. Prevention is not possible as it is genetic, but genetic testing may help those with a family history.

1. Cystic fibrosis
BY: Mr. Ganesh V. Naik
II year MSc(N)
Pediatric Dept
SDM Institute of
Nursing Science’s
Dharawad

2. INTRODUCTION
• Cystic fibrosis is a common recessive genetic disease
which affects the entire body,causing progressive
disability and often early death.
• It is one of the most common
life-shortening inherited
diseases.

3. DEFINITON
• Cystic fibrosis is a disease passed down through families
that cause thick, sticky mucus to build up in the lungs,
digestive tract and other areas of the body.

4. ETIOLOGY
• Caused by a mutation in the gene for the protein
cystic fibrosis transmembrane conductance
regulator (CFTR).

5. RISK FACTOR
• Family history. Because cystic fibrosis is an inherited
disorder, it tends to run in families.
• Race. Although cystic fibrosis occurs in all races, it is
most common in white people of northern European
ancestry.

6. PATHOPHYSIOLOGY
CFTR loss of its function as a chloride ion transporter caused by misfolding
protein
Abnormal sodium and chloride transport across cell membrane,causing thick
tenacious secrection in lung and pancrease
Thick,sticky respiratory secretions that are difficult to remove
cause airway obstruction ,frequent respiratory infection.

7. CLINICAL MANIFESTATION
• Symptoms related to the respiratory
system include :
 Cough
 Fatigue
 Nasal congestion
 Recurrent episodes of pneumonia.

8. CON’T…
In newborns :
Delayed growth
Failure to gain weight
No bowel movement
Salty skin

9. INVESTIGATION
o History collection
o Physical Examination
o Genetic testing
o Sweat(chloride) test.
o Sputum tests

10. CON’T…
• Pulmonary Function Test
• Chest x-rays

11. MEDICAL TREATMENT
1.Antibiotics to prevent and treat lung and sinus
infections Eg:Azithromycin

12. CON’T…
2.Anti-inflammatory medications may help
reduce the inflammation in your lungs that is
caused by ongoing infections.
Eg:Steroid and Ibuprofen.

13. CON’T…
3.Inhaled medicines to help open the
airways. (eg:Mucolytics like Bisolven®)

14. CON’T…
4.Gene therapy. attempts to place a normal copy
of the CFTR gene into affected cells
5.Oxygen therapy may be needed as lung
disease gets worse.

15. SURGICAL TREATMENT
• Lungs transplantation requires surgery to
replace one or both of your lungs with
healthy lungs from a human donor.

16. COMPLICATION
• Many different types of complication can
occur with CF. The most complications affect
the respiratory,and digestive tract.
Respiratory system include :
Bronchiectasis
Chronic infection

17. CON’T…
• Digestive complication
• Nutritional deficiencies
• Diabetes
• Blocked bile duct

18. PREVENTION
• Actually,there is no way to prevent cystic fibrosis
because it is genetic disorder.
• But,if people or their partner has close relatives
who have cystic fibrosis,they both might want to
undergo genetic testing before having children of
they own.

19. HEALTH TEACHING
• Encourage patient avoid exposure to smoke,
dust, dirt, fumes, household chemicals,
fireplace smoke.
• Teach patient clearing or bringing up mucus or
secretions from the airways.

20. CON’T…
• Encourage patient
drinking plenty of fluids.
• Encourage patient to do exercising two or
three time a week.