Cystic fibrosis

Cystic fibrosis is a very serious, even fatal, genetic disease which commonly affects children and young adults. In this condition, the lungs and the digestive system get clogged with sticky mucus leading to respiratory and digestive problems. It is a progressive disease which worsens with time.

Causes

Cystic fibrosis occurs in a child who inherits two defective copies of the cystic fibrosis-associated genes, one gene from each parent. Due to this gene, the cells struggle with the salt and water movement across their walls. This can lead to the accumulation of thick and sticky mucus in the passages when accompanied by infections.

If both the parents carry the faulty gene, then each of the children born has 25% chances of getting cystic fibrosis.

Symptoms

Symptoms can appear soon after the child’s birth or early in the childhood or sometimes may not be seen until adulthood. The first and the most important sign of cystic fibrosis is the salt taste of the skin of the baby when kissed, or the baby does not pass stools as expected soon after birth. The other symptoms appear at later stages of life.

Cystic fibrosis affects multiple systems of the body producing several symptoms such as:

Respiratory symptoms

  • A persistent cough with thick and productive mucus
  • Shortness of breath and wheezing
  • Recurrent chest infections including pneumonia

Gastrointestinal symptoms

  • Weight loss or not gaining weight even after eating in increased quantities. This is due to the inability to efficiently absorb proteins and fats
  • Bowel disturbances including frequent, oily stools or intestinal obstruction
  • Stomach pain and discomfort can occur if too much gas builds up or if constipation occurs

Reproductive symptoms

  • Decreased fertility in women and infertility in men

Risk factors

Cystic fibrosis runs in families and is more common particularly in white people of Northern Europe.

Complications

The typical complications of cystic fibrosis are:

  • Malnutrition and vitamin deficiencies due to poor absorption of the nutrients
  • Sinus infections
  • Progressive lung damage due to chronic infections and inflammation which can even cause them to stop working
  • Pancreatitis (inflammation of pancreas which is painful)
  • Diabetes
  • Gallstone formation

Most of the cases of cystic fibrosis are detected immediately after the child’s birth using the newborn blood spot test. Tests are also conducted during pregnancy to check if cystic fibrosis is present in the fetus.

If your doctor suspects cystic fibrosis, then a sweat test is ordered. If the test result is positive, it indicates that excess levels of salt are present in the sweat compared to the normal. Thus, further tests are conducted on this basis and include one or more of the below:

Test typePurpose of the test
Genetic test To check for the presence of the faulty gene either in the blood or the salivary sample
Chest X-ray Creates images of the structures in the chest region To check for inflammation in the lungs, scarring and air entrapment
Sinus X-ray To detect sinusitis which is a complication of cystic fibrosis
Lung functioning Measures the breathing ability of the lungs
Sputum culture Presence of Pseudomonas bacterium indicates an advanced stage of cystic fibrosis

There is no cure for cystic fibrosis. Treatments are however available to prevent complications from arising, and to control the symptoms for easy living.

Treatment options for cystic fibrosis include:

  • Antibiotics to prevent chest infections
  • Medicines which promote the absorption of food
  • Medicines which cause widening of the airways and reduce the inflammation
  • Medicines which cause thinning of the mucus to expel it easily out of the lungs through coughing
  • Techniques and devices to clear off the mucus from the lungs

In the case of great damage to the lungs, lung transplantation is needed.

Following tips can be of much help for patients with cystic fibrosis:

Hygiene:

Encourage your child to wash hands regularly and thoroughly to protect from infections.

Diet:

You should provide the diet to your child as recommended by your nutritionist. Include more fibrous foods to prevent blockage in the bowel. Increase your child’s salt intake especially during hot summers. Provide high-calorie diet or supplements.

Get vaccinated:

Children with cystic fibrosis have a weakened immune system and should, therefore, get vaccinated annually against influenza.

Exercise:

To make the mucus thin, and to strengthen the heart, children with cystic fibrosis should regularly exercise. Walking, biking, etc. can be of much help.

Do not smoke:

As the lungs in people with cystic fibrosis are in a damaged state, it is better to stop smoking (both active and passive are dangerous).

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