Diseases & Conditions

Cystic fibrosis

Cystic fibrosisCausesDiagnosisMedicationsPrognosisSymptomsTestsTreatment


Cystic fibrosis is a genetic disease which can affect the entire body. It causes progressive disability and often results in death at an early age. It is also sometimes referred to as mucoviscidosis.

Causes of Cystic fibrosis

CFTR gene encodes the protein, Cystic fibrosis transmembrane conductance regulator in humans. CF (cystic fibrosis) is caused when the genomic sequence changes (mutation). The mutation in which three nucleotides get deleted is the commonest reason for the occurrence of CF. It accounts for 90% of the cystic fibrosis cases in the US. More than 1400 different mutations can result in CF.

Carriers of CF (people who show no external sign of cystic fibrosis but have a faulty set of CFTR gene) can pass it on to their children. Children who inherit two sets of defective genes from their parents who are both carriers will have cystic fibrosis.

Diagnosis of Cystic fibrosis

Based on the symptoms that are observed, CF can be diagnosed using the following tests.

  • Newborn Screening-Blood tests can show whether the pancreas of the newborn are working. Genetic tests help to determine the infant’s CFTR gene is defective.
  • Sweat test-In the sweat test, sweat is induced using a chemical and a mild current of electricity is provided using an electrode. The sweat produced is tested to measure the salt present. CF is confirmed if there are high levels of salt present.
  • Prenatal Screening-Amniocentesis and CVS sampling (chorionic villus) can be done in a pregnant woman to determine whether the fetus has CF.

Medication of Cystic fibrosis

Most cystic fibrosis patients need to take antibiotics on a regular basis.

Antibiotics against bacteria

  • Vancomycin
  • Meropenem,
  • Tobramycin
  • Piperacillin
  • Ciprofloxacin

Antibiotics for inhaled therapy (better lung function)

  • Tobramycin
  • Cayston
  • Colistin

Oral antibiotics for infections

  • Ciprofloxacin
  • Azithromycin

Prognosis of Cystic fibrosis

The prognosis for people with cystic fibrosis has undergone a massive change in recent years. Living normal lives well into adulthood has become a reality. But life expectancy depends greatly on the medical support available to the person. Compliance to the treatment and a healthy lifestyle can go a long way in preventing unnecessary complications. Support groups, family and friends can help a person suffering from CF to lead a meaningful and fulfilling life.

Symptoms of Cystic fibrosis

  • Skin that tastes salty
  • Little weight gain
  • Poor growth
  • Liver disease
  • Breathlessness
  • Infertility in men
  • Thick and sticky mucus
  • Diabetes
  • Chest infections that occur frequently
  • Cough
  • Bowel obstruction in infants
  • Diarrhea
  • Pancreatitis

Tests for Cystic fibrosis

Once cystic fibrosis is confirmed in a person, the following tests can be done to check the functioning of various organs and to what extent they have been affected.

  • Genetic test-to determine what kind of CFTR mutation is causing CF.
  • Chest X-ray- This helps to determine whether your lungs have been affected (scarred or inflamed) by cystic fibrosis.
  • Sinus X-ray- Shows whether you are developing sinusitis.
  • Lung function test- Helps to determine whether your lungs are working normally and to full capacity.
  • Sputum culture- Presence of the bacteria mucoid pseudomonas indicates that cystic fibrosis is in the advanced stage.

Treatment for Cystic fibrosis

CF cannot be cured. Treatments for cystic fibrosis aim at preventing and controlling infections of the lungs, removing the mucus that gets accumulated in the lungs, providing nutrition, preventing/treating the blockages that can occur in the intestines and preventing dehydration.

Lung infections in CF patients can be treated using CPT (chest physical therapy), oxygen therapy, aerobic exercises and medication. Advanced cases of CF may need lung transplants.

Digestive complications can be avoided by making sure the patient has a balanced and nutritional diet. Other complications such as diabetes and osteoporosis are common and need constant care and medical attention.