Cause:  Cystic fibrosis is transmitted as an autosomal recessive trait.  The immediate causes of symptoms are increased viscosity of bronchial, pancreatic, and other mucous gland secretions with consequent obstruction of glandular ducts.

Symptoms:

Symptoms may appear soon after birth or may take years to develop.

Sweat gland dysfunction:  the most consistent abnormality - muscle weakness, twitching, and other symptoms associated with hyponatremia (deficiency of sodium in the blood) and hypochloremia (abnormally diminished levels of chloride in the blood) - such as; cerebral edema, anorexia, headache, muscle cramps, seizures and coma.

Respiratory dysfunction:  wheezing; dry, nonproductive, paroxysmal cough; dyspnea (difficulty breathing); tachypnea (rapid respiration); barrel chest; cyanosis; and clubbing of fingers and toes.

GI dysfunction:  abdominal distention, vomiting, mal -absorption of fat and protein.  Stools are characteristically frequent, bulky, foul-smelling, and pale. Poor weight gain, poor growth, ravenous appetite, distended abdomen, thin extremities, and sallow skin with poor turgor.

Treatment:

Cystic fibrosis has no cure at this time.  The aim of treatment is to help the child lead as normal a life as possible.  Treatment varies on the organ systems involved.

To combat electrolyte losses in sweat, treatment includes generous salting of foods and, during hot weather, administration of salt supplements

To offset pancreatic enzyme deficiencies, treatment includes oral pancreatic enzymes with meals and snacks.  The child's diet should be low in fat but high in protein and calories and should include supplements of water-miscible, fat-soluble vitamins (A, D, E, and K)

For support contact the Cystic Fibrosis Foundation

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