Cystic fibrosis is an inherited disorder that affects the cells that produce mucus, sweat and digestive juices. It is caused by a mutation in the CFTR gene that results in a misfolded CFTR protein. This prevents proper water flow and leads to thick, dehydrated mucus. The buildup of mucus in the lungs and pancreas can cause life-threatening lung infections and problems with digestion. Cystic fibrosis is typically diagnosed through newborn screening, genetic testing, sweat tests, imaging and lung function tests. While there is no cure, treatment focuses on loosening mucus, treating infections, improving nutrition and managing symptoms with medications like antibiotics, enzymes and airway clearance techniques.

1. CYSTIC FIBROSIS
Sir. Stymass Kasty
SOKOINE UNIVERSITY OF AGRICULTURE
MOROGORO-TANZANIA

2. INTRODUCTION
 Inherited Disorder -Common
in white population, 1: 3,000)
 Autosomal Recessive
 Gene located on
Chromosome 7 (7q31.2-q31.3)
 Typically present in
Childhood (7% Adult=CF+)
 Cystic fibrosis affects the
cells that produce mucus,
sweat and digestive juices

3. MECHANISM
 CF results from a Misfolded or Improperly
functioning protein known as the Cystic Fibrosis
Trans-membrane Conductance Regulator (CFTR).
The CFTR Protein
 Single Polypeptide chain (1480
amino acids)
 Cyclic AMP Regulated Chloride
Channels
 Regulator of other ion channels
 Found in the plasma membrane
of normal epithelial cells

4. MUTATION CLASSES

5. In CF, the absence,
or dysfunction of
CFTR channel
inhibits the flow of
water and leaves
mucous dehydrated
and thickened,
making it difficult
to move with
normal ciliary
clearance.

6. MUCUS CLEARANCE

7. AIRWAY

8. TEST AND DIAGNOSIS
 New Born Screening (NBS): Increased
chemical Immunoreactive Trypsinogen
(IRT), released by the Pancreas
 Genetic Test (DNA): To confirm the diagnosis
 Sweat Test: When the infant is at least 2
weeks old. Using Sweat Producing Chemical
such as Pilocarpine
 Imaging Tests: X-rays, CT Scan and MRI
 Sputum Culture and Lung Function Tests

9. TEST AND DIAGNOSIS

10. NORMAL VS CF LUNGS

11. TREATMENT
MAJOR OBJECTIVES
 Prevent and control lung
Infections
 Removing and Loosening
mucus from the lungs
 Treating and Preventing
intestinal blockage
 Providing adequate nutrition
 Promote Clearance of
Secretions
MEDICATION
 There is NO Cure for CF
 Some OPTIONS are:
o Antibiotics
o Anti-Inflammatory Drugs
o Mucus-thinning Drugs
o Bronchodilators
o Oral Pancreatic Enzyme
o Ivacaftor (Kalydeco)-NEW

12. CONCLUSION
Potential Future Treatments:
Gene Therapy Research may
also be a viable approach for
treating lung diseases caused by
Cystic Fibrosis (CF)