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Cystic fibrosis

Cystic fibrosis (CF) is a genetic disorder which affects the cells that make mucus, sweat and the digestive fluids. In CF, these fluids become thick and eventually block respiratory and digestive passages. Increased mucus build-up in the airways cause breathing difficulty and can ultimately result in severe lung damage. Mucus can cause obstruction of the pancreatic ducts which may cause malabsorption of food. Obstruction of the bile ducts may result in severe liver cirrhosis. Thick secretions in the intestines may cause your feces to be very thick and cause constipation. CF is a severe condition that needs daily care. In India, about 3000 children are being born with cystic fibrosis every year.

Cystic fibrosis is caused due to the mutation in the CFTR gene (cystic fibrosis transmembrane conductance regular gene). For a child to acquire cystic fibrosis, both the parents must be carriers of the defective gene (CFTR gene).

Signs and symptoms

Cystic fibrosis is usually diagnosed at an early age. The signs and symptoms of cystic fibrosis are not the same for every child and they change over time. Some common symptoms of cystic fibrosis in a neonate are as follows:

  • Blocked small intestine at birth that prevents the passage of the first stool of the baby
  • Salty skin/sweat
  • Difficulty in breathing
  • Sinusitis
  • Severe cough
  • Wheezing
  • Diarrhea

Diagnosis of cystic fibrosis

If the physician suspects that a child may have cystic fibrosis, he may order for a newborn screening test for CF. If the child has a positive newborn screening, a sweat test is prescribed to confirm the diagnosis.

  • Neonatal screening: In new-borns, the levels of a digestive enzyme (Immuno reactive trypsinogen) is analysed using the blood sample of the neonate. A high level of this enzyme in the blood indicates that the child may have cystic fibrosis.
  • Sweat Test: During sweat test, your doctor would induce sweat over a selected patch of the baby’s skin with the help of a medicine and the sweat is collected into a paper or a pad. High levels of the salt in sweat indicates cystic fibrosis.

Prenatal Screening: CF can be diagnosed early by identifying the defective gene (CFTR gene) in the fetus.

  • Amniocentesis: In this process, a hollow needle is inserted into the uterus of the pregnant mother through the abdominal wall, and small amount of the amniotic fluid is drawn. This fluid is further tested for the presence of the defective gene (CFTR gene).
  • Chronic villus sampling: It is a type of prenatal screening in which a tube is inserted to the placenta through cervix, and a sample of placental tissue is suctioned. The tissue sample is then tested to detect the defective gene (CFTR gene).

Genetic tests for adults: Genetic tests for adults is usually suggested for couples before conceiving to help them find out either one or both are the carriers of the defective gene (CFTR gene).

Other tests: The following tests are done to monitor the organ function of in the patients with cystic fibrosis:

  • Lung function test: This test is done to assess the rate and amount of air that is passing through the airways during breathing. This test can help to find out the severity of airway obstruction.
  • Arterial blood gas analysis: This test measures the levels of blood gases such as oxygen and carbon dioxide. Normal levels of the blood gases indicate normal lung function.
  • Stool analysis: Stool sample is analysed to check how well the patient with CF is absorbing and digesting fats and other nutrients.
  • Sputum culture: This test is done to find the cause of lung infection in patients with CF.

Treatment of cystic fibrosis

Treatment for the respiratory complications of CF:

Respiratory therapy aims at removing the mucus from the airways, improve breathing and improving lung function. This includes:

  1. Medications: Commonly prescribed medication in cystic fibrosis are antibiotics, mucolytics and bronchodilators.
  2. Airway clearance techniques and breathing exercises: These help in removing the mucus from airways, improving the breathing capacity and lung function.
  3. Oxygen Therapy: Oxygen therapy may be required in severe cystic fibrosis when the oxygen saturation of blood becomes critically low.

Treatment for the gastrointestinal complications of CF:

  1. Digestive Enzyme Replacement Therapy: This therapy involves the use of drugs to aid the absorption of nutrients from food.
  2. Nutrition therapy: In severe CF, nutritional supplements and foods rich in fats and calories need to be administered through a feeding tube.
  3. Stool softeners: These help in relieving constipation.

Precautions

The following measures should be taken to prevent complications of CF

  • Adequate hydration: The child with CF should drink plenty of water and other fluids as they aid in thinning the mucus in the lungs
  • Stay away from smoke and dust: Smoke, dust and other irritants may cause narrowing of airways and increase difficulty in breathing.
  • Diet: The child should consume a diet that is rich in fibre, vitamins and minerals in order to get proper nutrition.
  • Immunization: The child with CF should get influenza and pneumonia vaccination to prevent these infections.
  • Exercise: The child with CF should be motivated to exercise regularly to improve breathing efficiency.

Why choose Apollo Diagnostics?

We have the expertise of 34 + years in healthcare. Our labs are equipped with EQUAS (External Quality Assurance System) and loaded with full automated machines to ensure error free reports, with a quick turnaround time, and at an affordable price. For your convenience, we offer free home collection of samples.

For appointments, please call 4444 2424.

References

  1.  Cystic fibrosis-topic overview.  http://www.webmd.com/children/tc/cystic-fibrosis-topic-overview#1. Assessed on 29/10/2017.
  2. Cystic fibrosis exams and tests.  http://www.webmd.com/children/tc/cystic-fibrosis-topic-overview#1. Assessed on 3/10/2017.
  3. How is cystic fibrosis diagnosed? https://www.nhlbi.nih.gov/health/health-topics/topics/cf/diagnosis. Assessed on 3/10/2017.


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