Cystic Fibrosis

Cystic fibrosis is an autosomal recessive disorder children and adults

A deletion occurring on the long arm of chromosome 7 at the cystic fibrosis
transmembrane regulator (CFTR) is the responsible gene mutation.
DNA testing can be used prenatally and in newborns to identify the presence of the
mutation
Cystic fibrosis is the most common debilitating disease of childhood among those of
European descent
 Median age for survival being the late 30s.

Complications-
 Hemoptysis
 Pneumothorax
 Bacterial colonization
 Cor pulmonale
 Volvulus
 Intussusception
 Intestinal obstruction
 Rectal prolapse
 Gastroesophageal reflux disease
 Diabetes
 Portal hypertension
 Liver failure
 Gallstones
 Decreased fertility

Pathophysiology-
1. In cystic fibrosis, the CFTR mutation causes alterations in epithelial ion transport
on mucosal surfaces, resulting in generalized dysfunction of the exocrine glands.
2. The epithelial cells fail to conduct chloride, and water transport abnormalities
occur.
3. This results in thickened, tenacious secretions in the sweat glands, gastrointestinal
tract, pancreas, respiratory tract, and other exocrine tissues.
4. The increased viscosity of these secretions makes them difficult to clear.
5. The sweat glands produce a larger amount of chloride, leading to a salty taste of
the skin and alterations in electrolyte balance and dehydration.
6. The pancreas, intrahepatic bile ducts, intestinal glands, gallbladder, and
submaxillary glands become obstructed by viscous mucus and eosinophilic
material.
7. Pancreatic enzyme activity is lost and malabsorption of fats, proteins, and
carbohydrates occurs, resulting in poor growth and large, malodorous stools.
8. Excess mucus is produced by the tracheobronchial glands.
9. Abnormally thick mucus plugs the small airways, and then bronchiolitis and further
plugging of the airways occur.
10. Secondary bacterial infection with Staphylococcus aureus, Pseudomonas
aeruginosa, and Burkholderia cepacia often occurs. This contributes to obstruction
and inflammation, leading to chronic infection, tissue damage, and respiratory
failure.
11. Nasal polyps and recurrent sinusitis are common.
12. Boys have tenacious seminal fluid and experience blocking of the vas deferens,
often making them infertile
13. In girls, thick cervical secretions might limit penetration of sperm.