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

  • Fatigue

  • Male infertility

  • Clubbed fingers (enlargement of fingertips and downward sloping of nails)

  • Respiratory symptoms

    • Persistent coughing, sometimes with phlegm

    • Shortness of breath or wheezing

    • Nasal congestion

    • Intolerance to exercise

    • Recurrent lung infections

    • Stuffy nose

    • Sinus infections

  • Digestive symptoms

    • 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.

  • Medications include:

    • Antibiotics to prevent and treat lung infections

    • Mucus-thinning agents

    • 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

  • Surgeries include:

    • 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. 2021. About Cystic Fibrosis. [online] Available at: <> [Accessed 20 July 2021].

2. Encyclopedia, M. and fibrosis, C., 2021. Cystic fibrosis: MedlinePlus Medical Encyclopedia. [online] Available at: <> [Accessed 20 July 2021].

Disclaimer: This article is written by Practo for informational and educational purposes only. The content presented on this page should not be considered as a substitute for medical expertise. Please "DO NOT SELF-MEDICATE" and seek professional help regarding any health conditions or concerns. Practo will not be responsible for any act or omission arising from the interpretation of the content present on this page.