The challenges of cystic fibrosis.

Cystic fibrosis (CF) is a generalized disorder of the exocrine glands inherited 
as a recessive genetic trait. The disease was more fully described 
as a specific entity in 1939 with a pathology of dilated 
ducts and fibrotic changes in the pancreas and copious secretory intraluminal 
obstruction of the bronchial tree. The symptoms predominately involve the gastrointestinal 
tract as more frequent, bulky, malformed and malodorous stools and the 
respiratory system as cough, wheezing and signs of chronic respiratory obstruction. 
In certain instances, only one of these two systems will have 
manifest symptoms and signs. An increased concentration of sodium and chloride 
in the sweat was discovered in 1953. The elevated salt concentration 
of the sweat has proven to be a reliable diagnostic tool 
to confirm the presence of the disease. Few diseases present in 
so many different forms, degrees of severity and at different ages 
as does CF. All present treatments for cystic fibrosis are essentially 
symptomatic. Since the study of families having a child with cystic 
fibrosis has shown an incidence of the disease in one fourth 
of their siblings, classification of the disease as an autosomal recessive 
genetic disorder suggests that the concept of an abnormal gene related 
to alteration in a single enzyme should apply. The diagnosis of 
cystic fibrosis in childhood is an overwhelming even to the patient 
and his family. 