Cystic fibrosis is classically a disease of childhood that progresses into adulthood. If you have a genetic defect related to cystic fibrosis (CF), you are more likely to be born with cystic fibrosis. The symptoms might appear later, and hence, the age at diagnosis varies widely.
Earlier cystic fibrosis used to be diagnosed only after the appearance of its signs and symptoms. However, with the wider availability of a screening method, DNA-based blood test, after 2005, cystic fibrosis is getting detected as early as the first 28 days of birth (neonate).
What is cystic fibrosis exactly?
Cystic fibrosis is a hereditary disease/genetic condition that involves multiple organs, but most commonly affects the respiratory system, followed by the pancreas. If you have cystic fibrosis, your body produces sticky mucus that builds up in multiple organs in the body. This results in progressive obstruction in the functioning of various organs of the body and ultimately becomes life-threatening.
How do you get cystic fibrosis?
Cystic fibrosis is caused by defects in the cystic fibrosis gene, which codes for a protein, transmembrane conductance regulator (CFTR), dealing with the production of mucus and sweat.
Your mucus is normally a thin and slimy secretion that helps to ward off bacteria from your nose and throat. Defective CFTR results in sticky mucus that promotes infection and inflammation. Secretions in the respiratory tract, digestive system (pancreas, intestines), sweat glands, and reproductive system become thicker and are difficult to clear.
For you to get cystic fibrosis, both of your parents should carry one copy of the defective gene and you should inherit one copy from each of your parents.
Children who inherit one faulty gene from one of the parents and one normal gene from the other will be "CF carriers." Cystic fibrosis carriers may have no symptoms of cystic fibrosis, but they can pass the faulty gene on to their children.
How does cystic fibrosis affect a baby?
In babies with cystic fibrosis, the lungs are normal while in their mother’s womb, at birth, and after birth before the infection sets in. Shortly after birth, many babies with cystic fibrosis acquire a lung infection, which stimulates an inflammatory response. This cycle keeps on repeating and the baby gets a frequent bout of respiratory infections that damages the lungs over time.
Some babies affected with cystic fibrosis get meconium ileus, an intestinal blockage that occurs shortly after birth. Meconium ileus results in hard stools or decreased bowel movements (chronic constipation) in the baby.
Defects in the secretion of sweat abnormalities due to cystic fibrosis may result in heatstroke and salt depletion, especially in infants.
How is cystic fibrosis diagnosed?
Cystic fibrosis is diagnosed by looking at the results of the following examinations and tests:
- Respiratory tract examination: The doctor will ask for any growth or congestion in your nose, persistent cough, the type of cough, and breathing difficulties. They might ask for an X-ray or computerized tomography (CT) scan of the chest.
- Digestive tract examination: The doctor will ask for complaints, such as bloating, diarrhea, nutritional abnormalities, or weight loss. They will also ask for your blood sugar levels to check if you have got diabetes due to a problem with your pancreas.
- Family history: Positive family history of cystic fibrosis indicates a strong possibility of cystic fibrosis.
- Positive sweat chloride test: This is the most common test used for diagnosing cystic fibrosis. It measures the concentration of chloride in your sweat; higher levels indicate cystic fibrosis.
Newborn screening for cystic fibrosis is widely available in the United States. After consulting with a medical geneticist and a genetic counselor, you can also opt for direct genetic testing to find out if you or your child carries the cystic fibrosis gene.
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Cystic fibrosis. Available at: https://rarediseases.org/rare-diseases/cystic-fibrosis/
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