Cystic Fibrosis: This generalized dysfunction of the
exocrine glands affects multiple organ systems with varying severity.
The underlying biochemical defect may reflect an alteration in a protein
or enzyme. Cystic fibrosis accounts for almost all cases of pancreatic
enzyme deficiency in children. It is the most common fatal genetic
disease of white children. About 50% of affected children die by
age 16. Some survive to age 30.
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