Cystic Fibrosis

Cystic Fibrosis is the second most common life-shortening, childhood onset inherited disorder in the United States, behind sickle cell anemia. Approximately 30,000 people in the United States have Cystic Fibrosis (CF). 

Cystic fibrosis (CF) is a chronic and progressive disease usually diagnosed in childhood that causes mucus to become thick, dry, and sticky. The mucus builds up and clogs passages in many of the body's organs, but primarily the lungs and the pancreas. In the lungs, the mucus can lead to serious breathing problems and lung disease. In the pancreas, the mucus can lead to malnutrition and problems with growth and development.

People with CF have an average life expectancy of about 32 years, although new treatments offer hope for longer and healthier lives.

  • Cystic fibrosis occurs most commonly among whites.  It is estimated that 1 in 3,200 white births are affected in comparison to 1 in 10,500 Native Americans, 1 in 11,500 Hispanics, 1 in 14,000 to 17,000 African Americans, and 1 in 25,500 Asians

     

  • More than 10 million Americans are unknowing, symptomless carriers of the defective CF gene.  An individual must inherit two defective CF genes -- one from each parent -- to have CF.  Each time two carriers conceive, there is a 25 percent chance that their child will have CF; a 50 percent chance that the child will be a carrier of the CF gene; and a 25 percent chance that the child will be a non-carrier.

     

  • The most common symptoms of CF include very salty-tasting skin, persistent coughing, wheezing or shortness of breathing, an excessive appetite but poor weight gain and greasy, bulky stools.  Respiratory infections increase with age.

     

  • Nearly 1,000 new cases of the disease are diagnosed in the United States each year. Over 80 percent of CF cases are diagnosed by the age of three; however 10 percent of new cases are diagnosed in those over 18.The sweat test is the standard diagnostic test for CF. 

     

  • The treatment of CF depends upon the stage of the disease and the organs involved.  Chest physical therapy to clear mucus from the lungs is an important part of the daily CF treatment regimen.  Other types of treatments include TOBI, an aerosolized antibiotic used to treat lung infections; Pulmozyme, a mucus-thinning drug shown to reduce the number of lung infections and improve lung function; and azithromycin, an antibiotic that improves the lung function of people with CF whose lungs are chronically infected with Pseudomonas aeruginosa bacteria, the most common cause of respiratory infection in people with CF.
Cause

People with cystic fibrosis have a problem with the way salt�sodium and chloride�and water move in and out of mucus-producing cells. Normally, salt and water move easily across cells, keeping mucus> secretions thin and fluid, lubricating organs and keeping the lungs and air tubes clean by carrying off germs and dust. The defect in the CFTR gene causes the mucus to become dry, thick, and sticky. The mucus can clog organ passages, hinder organ secretions, and attract bacteria. The symptoms and complications of CF are largely a result of this abnormally thick mucus.

Carriers of CF may be at higher risk for some mild complications, such as inflammation of the pancreas (pancreatitis) or sinusitis.

Symptoms

Symptoms of CF are usually caused by the production of thick, sticky mucus. Symptoms vary from person to person and are not always present at birth; in some people, symptoms may be very mild and not be noticed or develop until later in childhood or early adulthood.

Early signs and symptoms

Symptoms of CF in a baby or young child may include:

  • A blockage of the small intestine at birth, called a meconium plug or meconium ileus. This blockage affects approximately 17% of newborns with CF.
  • Salty sweat or skin, a classic sign of CF.
  • Poor appetite, lack of energy, and weight loss during infancy, sometimes called failure to thrive. Usually this occurs if a mucus blockage prevents digestive enzymes produced in the pancreas from reaching the intestines, where they are needed for digestion. Pancreatitis may be the first symptom in some children and adults.
  • Irregular bowel movements. This may include persistent diarrhea; large, greasy stools; or constipation. Stools may be unusually bad-smelling. If the intestines become blocked, the child may have a bloated stomach and may not be able to have a bowel movement.
  • Difficulty breathing and respiratory system infections. Children with CF may have frequent infections in the lungs, nose, and sinuses, such as bronchitis or sinusitis. A child may tire easily while playing.
  • Persistent cough and wheezing. These symptoms may appear along with respiratory system infections and last longer than normal in children with CF. Coughing is usually worse at night and when waking up in the morning.
When To Call a Doctor

Report any symptoms of cystic fibrosis (CF) to your health professional right away. The risk for developing permanent lung damage is reduced if CF is promptly diagnosed and treated.

Call a health professional if your child:

  • Has frequent lung infections (pneumonia), colds, an ongoing cough, shortness of breath, or wheezing.
  • Coughs up mucus that contains blood.
  • Does not gain or maintain weight despite healthy eating.
  • Has foul-smelling, large, greasy stools or diarrhea.
  • Has salty-tasting skin or sweat.
  • Tires easily during activity.
  • Has rounded, flat fingertips (clubbing).

Call your health professional if your child diagnosed with CF experiences even slightly worsening symptoms. Typically, this is when your child:

  • Has increased or worsening coughing.
  • Has new or worsening wheezing.
  • Experiences breathing difficulties with less exertion or otherwise worsening lung function.
  • Has unexplained weight loss or failure to gain weight as expected.
  • Experiences any symptoms or complications that you and your doctor have earlier established as requiring attention.

Source: Healthwise, Wrong Diagnosis.com and American Lung Association

 


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