Cystic fibrosis (सिस्टिक फाय्ब्रोसिस in Hindi) is an inherited disorder that causes severe damage to various organs, including your lungs, digestive system, and pancreas (an organ of the digestive system, which produces insulin and helps in digestion of food).
It is caused by a defective gene (the physical and functional unit of heredity) that makes your body produce abnormally thick and sticky mucus (a slippery fluid that coats and protects the linings of your airways, digestive tract, and other tissues and organs).
The buildup of thick mucus can make breathing difficult and lead to severe lung infections. The mucus also blocks passages that carry digestive enzymes from your pancreas to your small intestine and causes digestive problems.
Over time, the mucus buildup and infections can cause permanent lung damage, including the formation of scar tissue (fibrosis) and cysts in the lungs, giving the disease its name.
Let’s have a look at the causes, symptoms, and diagnosis of cystic fibrosis, and whether it can be treated.
Causes of Cystic Fibrosis
Cystic fibrosis is caused by mutations (changes) in a gene called the cystic fibrosis transmembrane conductance regulator (CFTR) gene, which cause the CFTR protein to be faulty, resulting in thick, sticky mucus that causes blockages and problems in your body.
How is Cystic Fibrosis Inherited?
Every person inherits two CFTR genes, one from each parent. A child who inherits a mutated CFTR gene from both parents will have cystic fibrosis.
If a mutated CFTR gene is inherited from only one parent and a normal CFTR gene is inherited from the other, the child will only be a carrier of cystic fibrosis and will not have the disease. Carriers can pass the mutated CFTR gene to their children.
Thus, a person may be at an increased risk of getting cystic fibrosis if the disease was prevalent in their family, or because of their genetics, race, or ethnicity.
Symptoms of Cystic Fibrosis
The symptoms of cystic fibrosis vary according to age and severity of the disease.
For some individuals, symptoms may appear at infancy, while others may not experience symptoms until puberty or adulthood.
The most common symptoms are:
Excessively salty sweat, leading to salty-tasting skin
Clubbed fingers (enlargement of fingertips and downward sloping of nails)
Persistent coughing, sometimes with phlegm
Shortness of breath or wheezing
Intolerance to exercise
Recurrent lung infections
Inadequate weight gain in spite of a good appetite
Intestinal blockage, especially in newborns
Severe constipation and belly pain
Increased gas, bloating, or a distended belly
Nausea and loss of appetite
Difficulties with bowel movement and greasy, bulky stools
Diagnosis of Cystic Fibrosis
Most people with cystic fibrosis are diagnosed by the age of two, and some are diagnosed in adulthood.
The diagnosis of cystic fibrosis may include:
Prenatal diagnostic tests: Tests may be performed on the amniotic fluid or placental cells of your unborn baby to check for mutated CFTR genes and diagnose cystic fibrosis.
Newborn screening: A newborn’s blood sample is checked for higher than normal levels of immunoreactive trypsinogen (IRT), a chemical released by the pancreas.
Sweat test: The sweat chloride test is used to diagnose cystic fibrosis on the basis of increased salt levels in the sweat.
Genetic test: Tests can be carried out on cheek cells or blood samples to find out if a person is carrying the faulty gene.
Clinical evaluation: Organs affected by the disease can be examined, and tests include chest X-ray, CT (Computed Tomography) scan, sputum test, faecal fat test, lung function test, and measurement of pancreatic function.
Treatment of Cystic Fibrosis
At present, there is no cure for cystic fibrosis. However, various treatment options are available to help manage the symptoms, reduce complications, and improve your quality of life.
Treatment is usually focused on keeping the airways clear, providing medicines to improve the functioning of the faulty CFTR protein, and preventing complications with surgery if required.
Antibiotics to prevent and treat lung infections
Nonsteroidal anti-inflammatory drugs (NSAIDs) to reduce airway inflammation
Bronchodilators (substances that dilate bronchi and bronchioles and decrease resistance in the respiratory airway) to help increase airflow
CFTR modulators to improve the function of the defective CFTR gene
Bowel surgery for removing a section of the bowel and relieving the blockage
Feeding tube insertion to provide nutrition through the nose or directly into the stomach
Double-lung transplant to improve the length and quality of life of a patient
Airway clearance techniques relieve mucus obstruction and reduce infection and inflammation in the airways, and may include mechanical devices such as a vibrating vest.
Pulmonary rehabilitation improves lung function and overall well-being and may include physical exercise and breathing techniques.
With up-to-date medication, therapies, and a healthy lifestyle, it is possible to lead an active life with cystic fibrosis.
Do not delay getting in touch with your doctor if you notice worsening symptoms in yourself or your child.
1. Cff.org. 2021. About Cystic Fibrosis. [online] Available at: <https://www.cff.org/What-is-CF/About-Cystic-Fibrosis/> [Accessed 20 July 2021].
2. Encyclopedia, M. and fibrosis, C., 2021. Cystic fibrosis: MedlinePlus Medical Encyclopedia. [online] Medlineplus.gov. Available at: <https://medlineplus.gov/ency/article/000107.htm> [Accessed 20 July 2021].
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