Cystic fibrosis is a genetic condition and life-threatening disorder because the lungs and digestive system become clogged with thick sticky mucus. It affects the cells that produce mucus, sweat and digestive juices. Because of a defective gene, the secretions become thick and sticky, thus clogging the paths, especially in the lungs and pancreas.
Causes
Cystic fibrosis is caused by a mutated CFTR gene, which creates a protein that regulates the salt in and out of the cells. This results in production of sticky mucus in the respiratory, digestive, reproductive systems, salty sweat.
It is inherited from both parents; children inherit one copy of the gene from each parent. If they inherit only one copy from one parent, they may not develop the disease, but will be carriers and possibly pass the gene to their children.
Symptoms
Cystic fibrosis symptoms vary; they may get worse or better. In some children, symptoms begin during infancy, while in others, they begin in adolescence or adulthood. Parents can notice it when they kiss their children, tasting salt. Most of the symptoms affect the respiratory system or the digestive system.
Respiratory symptoms are: persistent cough, recurring lung infections, stuffy nose, breathlessness, vomiting, and lower ability to exercise.
Digestive symptoms are greasy, smelly stools, difficulty in gaining weight, intestinal blockage (especially in newborns), severe constipation, prolonged jaundice.
Risk factors
- Family history. Because it is an inherited disorder.
- Race. It occurs in all races, but is most common in white people of Northern European ancestry.
Complications
Cystic fibrosis causes many complications, mostly in the respiratory, digestive and reproductive systems.
- Bronchiectasis is a condition where it is harder to move air in and out of the lungs
- Chronic infections. Thick mucus is an ideal environment for bacteria and fungi; sinusitis, bronchitis or pneumonia may be frequent
- Nasal polyps can develop because of inflamed and swollen nose
- Pneumothorax is more frequent in older people
- Collapsed lung due to recurring lung infections
- Respiratory failure when lungs no longer work
- Nutritional deficiencies as the digestive enzymes can’t pass through the mucus-blocked tubes to the intestines
- Diabetes can occur because the pancreas-produced insulin can’t reach other organs that need sugar
- Blocked bile duct that leads to liver problems or gallstones.
- Rectal prolapse – due to coughing or straining during constipation
- Infertility
- Osteoporosis
- Electrolyte imbalances because of the saltier sweat
It is advised not to join persons with cystic fibrosis together because of possible cross-infection.
Prevention
If there was a case of cystic fibrosis in the family, you and your partner may take a blood test before having children, to see the risk of having a child with cystic fibrosis.
If already pregnant and have made the genetic test which shows that your baby may be at risk of cystic fibrosis, the doctor can conduct additional tests on your developing child.
