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Cystic Fibrosis Symptoms

Cystic fibrosis symptoms are highlighted by a thickening of mucus.

Inhalers may help raspy breathing caused by cystic fibrosis. [© Shutterstock, 2010]
© Shutterstock, 2010
Inhalers may help raspy breathing caused by cystic fibrosis.

Cystic Fibrosis Symptoms

Cystic fibrosis symptoms are varied and sometimes difficult to detect. Cystic fibrosis (CF) is a genetic disease that manifests only when both parents are carriers of a defective gene. According to the Cystic Fibrosis Foundation, an estimated 30,000 Americans, predominately Caucasian, are living with cystic fibrosis. Children born with cystic fibrosis once had an average life span of only a few years. However, the identification of the CFTR gene (cystic fibrosis transmembrane conductance regulator) has allowed researchers to understand how the defective gene works and develop better ways to manage and treat cystic fibrosis. People with cystic fibrosis have a much longer life expectancy today, possibly living past their 40s.

Common Symptoms

Cystic fibrosis causes the body's natural mucus to be heavy and sticky. Instead of moving fluidly through the body, the mucus builds up and becomes an obstruction, affecting the lungs and inhibiting the digestive system and pancreas. Someone with cystic fibrosis may find it difficult to breathe. The thick mucus also traps bacteria, which raises the risk of infection inside the lungs. Many people with cystic fibrosis become diabetics if the mucus prevents the pancreas from excreting insulin. If the body's natural enzymes also cannot release from the pancreas, food is not broken down and absorbed, causing digestive issues and malnutrition.

People with cystic fibrosis experience one or more of these common symptoms:

  • Skin that has a salty taste due to the inability to absorb salt easily
  • A persistent cough that produces a lot of sputum
  • Several recurring infections of the lung, commonly treated as pneumonia and bronchitis
  • Difficulty in gaining weight even with a large appetite
  • Raspy breathing with occasional trouble catching a breath
  • Urine that is cloudy and has an extremely powerful smell
  • Large bowel movements that are often greasy and strong smelling
  • Diarrhea because food cannot be broken down
  • Dehydration due to malabsorption
  • Pain and discomfort in the stomach due to intestinal gas

Diagnosing Cystic Fibrosis: The Sweat Test

A genetic test will determine if a child has cystic fibrosis, and allow doctors to understand what particular strain of cystic fibrosis a child has, but often a sweat test is performed on a child suspected of having cystic fibrosis.

Children and adults living with cystic fibrosis do not absorb salt easily. When cystic fibrosis is suspected, a simple half-hour test is conducted to measure the amount of salt in the person's sweat. After a chemical (pilocarpine) is applied to the arm, a low-frequency electrode induces a chemical-activated sweat. The collected sweat is tested for the high level of salt associated with cystic fibrosis. According to MedlinePlus, cystic fibrosis is usually diagnosed by age 2, although milder cases may not be identified until later in life.

More Serious Health Issues

The National Heart, Lung and Blood Institute, states there are many medical conditions associated with cystic fibrosis. The more common conditions include pancreatitis, a painful inflammation of the pancreas; life threatening infections in the bronchial tubes and the lungs like bronchiectasis; and sinusitis, an infection throughout the sinus cavities caused by thick mucus. Growths or polyps that require surgical removal may develop in the nasal passage.

Other real dangers associated with cystic fibrosis include:

  • Gallstones
  • Scarring of the liver due to clogging
  • Liver disease
  • Diabetes
  • Rectal prolapse caused by part of the rectum pushing out due to bulky bowel movements
  • Lung collapse

Sometimes the heavy mucus does not allow sufficient oxygen into the blood stream so the fingertips and tips of the toes round out and widen, often referred to as "clubbing."

Cystic Fibrosis Treatment

According to the Cystic Fibrosis Foundation, a strict routine involving breathing therapy, medication and diet must be followed daily. Treatments include airway clearing techniques (ACT), which consist of loosening the mucus in the lungs to produce a cough by pounding on the back and the chest with a cupped hand or wearing a special vest that shakes the torso, loosening mucus in the lungs.

Nebulizer machines deliver medications and inhaled antibiotics (Albuterol, Pulmozyme, and Tobramycin) as a mist, which is breathed directly into the lungs to reduce inflammation and further clear out the mucus. A Hypertonic Saline solution can also be inhaled to replace the natural salt and moisture in the lungs to help move the mucus through.

Careful monitoring of diet is a key factor in maintaining health and fighting the effects of cystic fibrosis. Manufactured enzymes are taken with every meal and snack to replace the natural enzymes that can't get out of the blocked pancreas so that the body has the ability to absorb food, especially fats. Extra calories are usually necessary for normal weight gain and development. Occasionally, a feeding tube is surgically inserted into the stomach to provide the necessary calories and help with weight gain and growth.

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