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.
Cystic fibrosis. Available at: https://rarediseases.org/rare-diseases/cystic-fibrosis/
Top Can You Get Cystic Fibrosis at Any Age? Related Articles
Respiratory Illnesses: 13 Types of Lung InfectionsIs your cough caused by a cold, flu, pneumonia or something else? Learn causes of respiratory infection like bronchitis, pneumonia, SARS, Coronavirus COVID-19 bird flu, and more.
acetylcysteineAcetylcysteine, a mucolytic agent, is used to treat pulmonary diseases like chronic emphysema, asthmatic bronchitis, bronchiectasis, and acute pneumonia. Acetylcysteine breaks up mucus and makes it...
BronchiectasisBronchiectasis has three types: cylindrical bronchiectasis, saccular or varicose bronchiectasis, and cystic bronchiectasis. Causes of bronchiectasis include infection, environmental exposure, drug...- chloramphenicolChloramphenicol is a synthetic broad-spectrum antibiotic used to treat severe systemic infections, including bacterial meningitis, bacterial blood infection (bacteremia), typhoid fever, Rickettsial...
Common Medical Abbreviations & TermsDoctors, pharmacists, and other health-care professionals use abbreviations, acronyms, and other terminology for instructions and information in regard to a patient's health condition,...
- digestive enzymesDigestive enzymes are natural substances that help the digestive system break down food. Taken as a supplement, digestive enzymes may be used to treat adults and children with pancreatic...
- Digestive Enzymes OralOral digestive enzymes are found in the digestive tract, are naturally produced by the body, and help breakdown the foods we eat. The pancreas makes and secretes digestive enzymes. Prescription and...
- dornase alfa (Pulmozyme)Dornase alfa (Pulmozyme) is a drug prescribed for the long-term treatment of cystic fibrosis. Side effects, drug interactions, dosing, and pregnancy safety information should be reviewed prior to...
- gentamicinGentamicin is a broad-spectrum antibiotic used to prevent and treat many types of bacterial infections, and is typically administered as an injection. Gentamicin is also used to prevent surgical...
How Is Meconium Ileus Treated?Meconium ileus, a serious condition in newborn babies in which the intestines are blocked by the infant’s first stool, often needs surgical intervention and usually indicates the child will struggle...
Idiopathic Pulmonary Fibrosis (IPF)Idiopathic pulmonary fibrosis or IPF is a progressive lung disease. There is no known cause of IPF. Symptoms include shortness of breath, cough, fatigue, mild fevers, muscle pain, clubbing fingers,...- Kalydeco (ivacaftor)Kalydeco (ivacaftor) is a prescription medicine used for the treatment of cystic fibrosis (CF) in patients age 6 months and older who have at least one mutation in their CF gene that is responsive to...
Reasons You're Short of BreathHave you ever found yourself gasping for air after just a short flight of stairs? You may just need to do a bit more exercise, or it could be something more serious.- Why Is Meconium Ileus Diagnostic for Cystic Fibrosis?Meconium ileus is an obstruction in the small intestine caused by thick, congealed meconium, the first stool passed by a newborn baby. Cystic fibrosis, a genetic disorder, is a common cause of this...
- nitric oxide gasNitric oxide gas is used for treating hypoxic respiratory failure in newborns caused by impaired lung function, which leads to low oxygen levels in the tissues (hypoxia). It may also be used for...
Surprising Causes of Lung DamageCarpets, fireworks, and hot tubs are some of the unexpected things that can hurt your lungs. Find out what you can do to prevent problems from these and other culprits.
Sweat Chloride Test for Cystic FibrosisCystic fibrosis is one of the diseases that all newborns in the United States are screened for at birth. If the screening test is positive, then a sweat chloride test will be done to confirm cystic...- Trikafta (elexacaftor/tezacaftor/ivacaftor)Trikafta is a prescription medicine used for the treatment of cystic fibrosis (CF) in people aged 12 years and older who have at least one copy of the F508del mutation in the cystic fibrosis...