Cystic Fibrosis

Cystic Fibrosis (CF) is the most common chronic lung disease in children and young adults that is passed down through families (genetic). This disorder causes thick, sticky mucus to build up in the lungs, digestive tract, and other areas of the body causing severe lung damage and nutritional deficiencies. There is no cure for this disease, and it is life-threatening.

Cystic Fibrosis (CF) is more common in whites (Caucasians) but found in other races as well. To inherit the disease, both parents must be carriers of the gene. In the United States, one in 20 Caucasians is a carrier.

While Cystic Fibrosis does not have a cure, the field of medicine has made many strides towards enabling people with this diagnosis to live longer. Children are fairly healthy until they reach adulthood, and the average life span is 37 years. Lung disease eventually worsens to the point where the person becomes disabled.

Causes

Mucus is a substance made by the lining of some tissues in the body and is normally watery and slippery. It keeps the linings of certain organs moist and prevents them from drying out or getting infected. Cystic fibrosis causes this mucus to become thick and sticky. The thick mucus builds up in the lungs causing blocked airways making it easier for bacteria to grow and become infected. Over time, these infections can severely damage the lungs.

Thick mucus can also block tubes or ducts in the pancreas which prevents digestive enzymes entering the small intestine. Without these enzymes the intestines can’t absorb fats and proteins causing vitamin deficiency and a loss of nutrients needed to feed and maintain the body. It can also cause bulky stools, intestinal gas, a swollen belly from severe constipation, and pain or discomfort.

Cystic fibrosis also causes the body’s sweat to become very salty upsetting the balance of minerals in the blood and causing a condition where the body doesn’t have enough fluids (dehydration). People with CF tend to have higher than normal amounts of salts in their sweat. Parents often can taste the salt when they kiss their child. It can also cause an increased heart rate, weakness or tiredness, decreased blood pressure, heat stroke, and rarely, death. Children are also at a risk for diabetes or a bone thinning called osteoporosis.

Symptoms

Symptoms in newborn:

  • Delayed growth
  • Failure to gain weight normally
  • No bowel movements in the first 24-48 hours of life
  • Salty-tasting skin

Symptoms related to bowel function:

  • Belly pain from severe constipation
  • Increased gas, bloating, or a belly that appears swollen
  • Nausea and loss of appetite
  • Stools that are pale or clay colored, foul smelling, have mucus, or float
  • Weight loss

Symptoms related to the lungs and sinuses:

  • Coughing or increased mucus in the sinuses or lungs
  • Very tired
  • Nasal congestion caused by nasal polyps
  • Pneumonia that keeps coming back with increased coughing and shortness of breath, loss of appetite, and more coughing up a thick substance (sputum).

Complications

There are many complications that are caused by cystic fibrosis. The most common affect the respiratory, digestive and reproductive systems.

Respiratory

  • Bronchiectasis – condition in which airways widen and become flabby and scarred.
  • Chronic infections – in the lungs and sinuses
  • Collapsed lung
  • Nasal polyps
  • Respiratory failure – tissue in the lungs is damaged and lung function worsens and gradually becoming life-threatening.

Digestive

  • Nutritional deficiencies – body can’t absorb protein, fats or fat-soluble vitamins (A, D, E and K).
  • Diabetes
  • Blocked bile duct – leading to liver problems such as cirrhosis and sometimes gallstones
  • Rectal prolapse
  • Intussusception – condition where section of intestines folds on itself like an accordion.

Other complications

  • Osteoporosis – a dangerous thinning of the bones
  • Electrolyte imbalances – salty sweat upsets balance of minerals in the blood
  • Infertility – in men and less fertility in women.

There are many things that can be done at home to reduce the development of complications:

  • Exercise to help loosen mucus and to make heart and lungs stronger
  • Avoid any type of smoke
  • Drink plenty of fluids
  • Wash hands frequently to help prevent infections
  • Keep immunizations up to date
  • Doing chest therapy.

Diagnosis/Testing

There are various tests that can be done to determine cystic fibrosis:

  • Newborn screening – shows whether a newborn has faulty CFTR genes, or if the pancreas in working
  • Genetic tests
  • Sweat Chloride test
  • Chest X-ray
  • Sinus X-ray
  • Lung function tests
  • A sputum culture
  • Organ function tests for pancreas and liver

Treatment

Medications:

  • Antibiotics
  • Mucus-thinning drugs
  • Bronchodilators
  • Vitamins
  • Pancreatic enzymes to aid digestion

Chest Therapy:

  • Chest clapper
  • Inflatable vest
  • Breathing devices

Surgical and other procedures:

  • Feeding tube
  • Lung transplant
  • Bowel surgery

Treatment may also involve nutritional support to ensure that your child increases the daily number of calories consumed. One of our Registered Dieticians would be available for a nutritional consult. Call (865) 546-3998 to schedule an appointment.

This disease can cause emotional burdens in families. Our psychologist would be available to meet with your child and family. Call (865) 546-3998 to schedule an appointment.

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