(CFTR gene)

Also known as: Mucoviscidosis

OMIM#219700 https://omim.org/entry/219700

1. The disease

Cystic Fibrosis is an inherited disorder caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Cystic Fibrosis is inherited in an autosomal recessive pattern – a mutation must be present in the copies inherited from both the mother and the father – for the disease to manifest itself. The disease results in abnormal, thick secretions in the digestive and respiratory systems.

2. The symptoms

Infants are usually, initially, asymptomatic. Lack of early signs or symptoms does not exclude the diagnosis.

  • Newborns may present with meconium ileus, an intestinal obstruction caused by thick secretions at birth, however the majority will appear healthy.
  • Poor growth and abnormal bowel movements occur in most children within the first year of life due to abnormal secretion by the pancreas gland, resulting in malabsorption of fat and other nutrients.
  • Thick secretions in the lungs lead to persistent cough, shortness of breath and susceptibility to respiratory tract infections. Respiratory symptoms sometimes occur within the first few weeks of life but may not occur for years. CF is slowly progressive and often leads to chronic lung damage, eventually resulting in life-threatening complications. Early diagnosis and intervention can improve growth, maintain healthy lungs, reduce hospital stays, and increase life expectancy.

3. Actions to take in case of early diagnosis:

  • If the baby is evacuating normal, a positive genetic result can be followed in an ambulatory setting.
  • Babies should be tested for the quantitative pilocarpine iontophoresis (QPIT) sweat chloride test.

If the Sweat Test Confirms a Diagnosis of Cystic Fibrosis:

  • Cystic Fibrosis is a lifelong disease that requires regular follow-up with a physician with expertise in cystic fibrosis and a multidisciplinary approach to care is recommended.
  • The prognosis of Cystic Fibrosis and related disorders has improved significantly in recent years with routine follow-up, preventative care, and novel drugs that improve CFTR function. Current treatment, though, is not curative and does not prevent all of the complications of Cystic Fibrosis and therefore early intervention is essential to reduce long-term symptoms and complications.
  • Genetic counselling is highly recommended for family planning and evaluation of family members such as siblings.

4. For more information: