1. Dr. Pratima Ghimire June, 2009
Cystic Fibrosis
Dr. Pratima Ghimire
June, 2009

2. Cystic Fibrosis Genetic disorder Autosomal recessive
Inherited disease of secretory glands (which make mucous and sweat)

3. Cystic Fibrosis
Cause
Mutation in CFTR (cystic fibrosis transmembrane conductance regulator) gene
Product of this gene makes chloride ion channel

4. Cystic Fibrosis Pathophysiology Mutation in the CFTR gene
The protein created by this gene is anchored to the outer membrane of cells in the sweat glands, lungs, pancreas, and other affected organs
The protein spans this membrane and acts as a channel connecting the inner part of the cell (cytoplasm) to the surrounding fluid

5. Cystic Fibrosis Pathophysiology
This channel is primarily responsible for controlling the movement of chloride from inside to outside of the cell; however, in the sweat ducts it facilitates the movement of chloride from the sweat into the cytoplasm
When the CFTR protein does not work, chloride is trapped inside the cells in the airway and outside in the skin

6. Cystic Fibrosis Mucus becomes thick and sticky
Mucus builds up in lungs and blocks airways
Buildup of mucus makes it easy for bacteria to grow
This leads to repeated, serious lung infections. Over time, these infections can severely damage lungs

7. Cystic Fibrosis
The thick, sticky mucus also can block tubes, or ducts in pancreas
As a result, the digestive enzymes that pancreas makes can't reach small intestine
Intestines can't fully absorb fats and proteins
This can cause vitamin deficiency and malnutrition
It also can cause bulky stools, intestinal gas, a swollen belly from severe constipation, and pain or discomfort

8. Cystic Fibrosis Also causes sweat to become very salty
As a result body loses large amounts of salt during sweating
This can upset the balance of minerals in blood

9. Cystic Fibrosis CF causes increased risk for diabetes or osteoporosis
Also causes infertility in men, and it can make it harder for women to get pregnant

10. Cystic Fibrosis Hallmarks Salty tasting skin
Normal appetite but poor growth
Poor weight gain
Excessive mucus production
Coughing
SOB

11. Cystic Fibrosis
Males– infertile due to congenital B/L absence of vas deferens
Meconium ileus – typical finding in NB babies with cystic fibrosis
More common in western world

12. Cystic Fibrosis Diagnosis Sweat testing Genetic testing
Chorionic villous sampling
amniocentesis

13. Cystic Fibrosis
Cure
Gene therapy at early age – to replace the defective gene
Give active form of protein product that is deficient
Lung transplantation in severe lung disease
Pancreatic enzyme supplementation in severe pancreatic deficiency