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.
Health Solutions From Our Sponsors
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.
What Is Bronchiectasis?Bronchiectasis has three types: cylindrical bronchiectasis, saccular or varicose bronchiectasis, and cystic bronchiectasis. Causes of bronchiectasis include infection, environmental exposure, drug or alcohol abuse, and alpha-1 antitrypsin (congenital). Symptoms of bronchiectasis include shortness of breath, fatigue, chronic cough, bloody sputum, and wheezing. Treatment for bronchiectasis includes antibiotics and possibly surgery.
Bronchitol (mannitol)Bronchitol is a prescription medicine that is used along with other therapies to improve lung function in people 18 years of age and older with cystic fibrosis (CF) who have passed the Bronchitol Tolerance Test (BTT). Serious side effects of Bronchitol include sudden breathing problems and coughing up of blood (hemoptysis).
Can You Live a Long Life With Cystic Fibrosis?How long can you live with cystic fibrosis? Learn the signs of cystic fibrosis and what to do if someone you know has cystic fibrosis.
Cystic FibrosisCystic fibrosis is a disease of the mucus and sweat glands. Cystic fibrosis is an inherited disease. The outcome of the disease leaves the body malnourished, with bulky and fouls smelling stools, vitamin insufficiency, gas, painful or swollen abdomen, infertility, susceptible to heat emergencies, and respiratory failure. There is no cure for cystic fibrosis, treatment of symptoms is used to manage the disease.
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 with the congenital disease cystic fibrosis throughout their lives.
How Long Can You Live With Cystic Fibrosis?The life expectancy of patients with cystic fibrosis has improved over the last 50 years. The improved chances of survival are due to advances in early diagnosis, supportive care, nutritional care, and infection control.
What Is 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, and ankle swelling. Treatment of idiopathic pulmonary fibrosis is directed at managing symptoms. The life expectancy is about 2 to 5 years.
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 Kalydeco. Kalydeco can cause serious side effects, including high liver enzymes in the blood.
What Is the Life Expectancy of Someone Born With Cystic Fibrosis?Cystic fibrosis (CF) is a genetic disease that causes progressive damage to the organs, especially the lungs and digestive system. People with cystic fibrosis often complete school, including college, have fulfilling jobs, find love, and have children.
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 problem.
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 (Cystic Fibrosis)The sweat chloride test is a common test used to evaluate a patient suspected of having cystic fibrosis. Cystic fibrosis is a genetic disease common in Caucasians. The sweat chloride test is a fairly simple and painless procedure.
Symdeko (tezacaftor/ivacaftor)Symdeko (tezacaftor/ivacaftor) is a prescription medicine used for the treatment of cystic fibrosis (CF) in patients age 6 years and older who have two copies of the F508del mutation, or who have at least one mutation in the CF gene that is responsive to treatment with Symdeko. Serious side effects of Symdeko include high liver enzymes in the blood, and abnormality of the eye lens (cataract) in some children and adolescents.
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 transmembrane conductance regulator (CFTR) gene. Trikafta can cause serious side effects, including high liver enzymes in the blood.