The pathogenesis of cystic fibrosis, the common denominator responsible for the widespread dysfunction of so many or perhaps all exocrine glands, is not known. The basis defect, whatever its nature, is genetically transmitted and there is suggestive evidence that it may be present in varying degrees and so affect the variety and severity of clinical manifestations in different individuals. There are accumulating data to indicate that the heterozygous state may be identified by biochemical or physiologic tests.
The abnormal chemical structure of mucoproteins in duodenal contents of patients with cystic fibrosis tends to decrease the solubility, while the abnormal physicochemical behavior shows that these mucoproteins are easily denatured and rendered insoluble. If this were true of mucous secretions throughout the body it would be possible for a change in the physicochemical environment of these mucous secretions to cause irreversible precipitation of mucoproteins in organs such as the pancreas, liver and others, thus initiating the chain of clinical events and leading to many of the symptoms manifested by patients with the disease.
Despite the almost constant and striking association of Staphylococcus aureus and the respiratory involvement in cystic fibrosis, the distribution of bacteriophage types of this microorganism resembles that found in other hospitalized patients.
- Copyright © 1959 by the American Academy of Pediatrics