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.
QUESTION
What percentage of the human body is water? See AnswerCystic fibrosis. Available at: https://rarediseases.org/rare-diseases/cystic-fibrosis/
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acetylcysteine
Acetylcysteine, 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 easier to cough up and clear the lungs. Common side effects include bronchospasm, odor, drowsiness, fever, coughing up blood (hemoptysis), increased volume of bronchial secretions, irritation of tracheal or bronchial tract, nausea, and others. Do not use if you have acute asthma. Consult your doctor if you have a history of bronchospasm, or if you are pregnant or breastfeeding.
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.chloramphenicol
Chloramphenicol is a synthetic broad-spectrum antibiotic used to treat severe systemic infections, including bacterial meningitis, bacterial blood infection (bacteremia), typhoid fever, Rickettsial infections, and exacerbation of cystic fibrosis. Common side effects of chloramphenicol include bone marrow depression, blood disorders (including anemia), headache, confusion, delirium, depression, nausea, vomiting, diarrhea, and others. Avoid use in nursing mothers; discontinue either the drug or nursing. Consult your doctor if pregnant.
Common Medical Abbreviations & Terms
Doctors, pharmacists, and other health-care professionals use abbreviations, acronyms, and other terminology for instructions and information in regard to a patient's health condition, prescription drugs they are to take, or medical procedures that have been ordered. There is no approved this list of common medical abbreviations, acronyms, and terminology used by doctors and other health- care professionals. You can use this list of medical abbreviations and acronyms written by our doctors the next time you can't understand what is on your prescription package, blood test results, or medical procedure orders. Examples include:
- ANED: Alive no evidence of disease. The patient arrived in the ER alive with no evidence of disease.
- ARF: Acute renal (kidney) failure
- cap: Capsule.
- CPAP: Continuous positive airway pressure. A treatment for sleep apnea.
- DJD: Degenerative joint disease. Another term for osteoarthritis.
- DM: Diabetes mellitus. Type 1 and type 2 diabetes
- HA: Headache
- IBD: Inflammatory bowel disease. A name for two disorders of the gastrointestinal (BI) tract, Crohn's disease and ulcerative colitis
- JT: Joint
- N/V: Nausea or vomiting.
- p.o.: By mouth. From the Latin terminology per os.
- q.i.d.: Four times daily. As in taking a medicine four times daily.
- RA: Rheumatoid arthritis
- SOB: Shortness of breath.
- T: Temperature. Temperature is recorded as part of the physical examination. It is one of the "vital signs."
digestive enzymes
Digestive 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 insufficiency caused by cystic fibrosis, chronic pancreatitis (inflammation of the pancreas), pancreatectomy (removal of all or part of the pancreas), or pancreatic cancer. Common side effects of digestive enzymes include headache, neck pain, dizziness, abdominal cramping, nausea, diarrhea, gas (flatulence), indigestion, abnormal stools, and others. Do not take if you have acute pancreatitis.Digestive Enzymes Oral
Oral 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 OTC digestive enzymes are available in PEPs or pancreatic enzyme products. PEPs are prescribed for people with cystic fibrosis, chronic pancreatitis, pancreatic cancer or tumors, Shwachman-Diamond syndrome, or removal of part or all of the pancreas. Side effects include life-threatening allergic reactions, difficulty breathing or talking, swelling of the mouth/face/lips/tongue/throat, chest tightness, rash or hives, itching, red, swollen, blistered, or peeling skin; wheezing.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 taking this medication.gentamicin
Gentamicin 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 infections, and to treat conditions such as cystic fibrosis, pelvic inflammatory disease, and infective endocarditis. Common side effects of gentamicin may include reduced urine output, kidney damage, vertigo, dizziness, hearing loss, ringing in the ears (tinnitus), balance problems (vestibular), impaired coordination, balance and speech (ataxia), gait instability, skin reactions (swelling, rash, itching), and others.
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.
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.
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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.nitric oxide gas
Nitric 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 cystic fibrosis, acute respiratory distress syndrome (ARDS), pulmonary arterial hypertension (PAH), sickle cell crises, diagnosis of sarcoidosis, and others. Common side effects of nitric oxide gas include low blood pressure (hypotension), withdrawal, complete or partial collapse of a lung’s lobe or an entire lung (atelectasis), blood in urine (hematuria), high blood glucose levels (hyperglycemia), whistling sound while breathing due to obstructed airway (stridor), infection, cellulitis, and sepsis.
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Sweat Chloride Test
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.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.