What Is Cystic Fibrosis

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Old 21-Jul-2009
What Is Cystic Fibrosis

Cystic fibrosis (CF) is a genetic disorder that affects the secretory glands of a person, including the glands that make mucus and sweat. It is inherited by a person, at the time of his birth, and mainly affects the lungs, pancreas, liver, intestines, sinuses, and sex organs. In normal circumstances, the mucus of a person is watery in nature, as it is intended to keep the linings of certain organs moist, to prevent them from drying out or getting infected. However, in people who have inherited cystic fibrosis, the mucus tends to become thick and sticky. This texture of mucus leads to its build up in the lungs and blocks the airways, apart from the tubes or ducts in the pancreas. This, in turn, leads to many other problems. In majority of the cases, doctors conduct a sweat test to diagnose cystic fibrosis.

Other Names:

Cystic fibrosis is known by a number of other names as well. These are:
  • Cystic fibrosis of the pancreas
  • Fibrocystic disease of the pancreas
  • Mucoviscidosis
  • Mucoviscidosis of the pancreas
  • Pancreas fibrocystic disease
  • Pancreatic cystic fibrosis

The main reason behind cystic fibrosis is a defect in the gene known as Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene. The gene is responsible for the production of a specific protein in the body, which controls the movement of salt and water in and out of the body cells. In all those people who are affected with cystic fibrosis, the gene does not work effectively and results in the formation of thick, sticky mucus, along with very salty sweat. All the people inherit two CFTR genes, one from each of the parents. When both of the CFTR genes inherited by a person are abnormal, he/ she falls victim to Cystic Fibrosis. If only one gene is abnormal, the person does not develop CF.

  • Frequent coughing, which often results in thick sputum or phlegm (flem) coming up
  • Frequent bouts of bronchitis and pneumonia, which can lead to inflammation and permanent lung damage
  • Salty-tasting skin
  • Dehydration
  • Infertility (mostly in men)
  • Ongoing diarrhea or bulky, foul-smelling, and greasy stools
  • A marked increase in appetite, combined with poor weight gain and growth (mainly because chronic malnutrition, a result of not getting enough nutrients from the food)
  • Stomach pain and discomfort, a result of by too much gas in the intestines

Resultant Medical Conditions:

Apart from the symptoms mentioned above, cystic fibrosis might also result in the following medical problems, in the patient:
  • Sinusitis (sinuses get swollen and blocked with mucus)
  • Bronchiectasis (bronchial tubes become stretched out and flabby with mucus, resulting in lung infections)
  • Pancreatitis (inflammation in the pancreas)
  • Intestinal blockage (especially in newborns)
  • Nasal polyps (growths in nose)
  • Clubbing (widening and rounding of the tips of fingers and toes)
  • Pneumothorax (collapsed lungs)
  • Rectal prolapse (rectal tissue moves out of the rectum)
  • Liver disease
  • Diabetes
  • Gallstones
  • Low bone density

Old 24-Jul-2009
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