IN THE COURSE of a review of all features of the disease, the following points were particularly noteworthy:
This disease accounts for almost all cases of pancreatic insufficiency in children. The incidence in the population of the United States is between 1 in 600 and 1 in 10,000 live births, with a probable average incidence of 1 in 2,500. There is no sex predominance. There is, however, a difference in racial predilection, being rarely seen in the Negro and never in Mongolians. It is a familial disease, displaying the characteristics of a mendelian recessive gene. This means that in an affected family the disease may occur in approximately 25% of the offspring, that both parents must be carriers of the trait and that two-thirds of the non-affected children are also carriers. Birth order has no effect on the inheritance of this disease. The fact that it is usually a lethal disease indicates that the mutation rate for this gene must be very high; the frequency of the single gene in the population has been calculated to be approximately 1 in 50.
Clinical evidence of poor digestion and absorption of protein and fat is seen in the increased quantities of these substances in the feces, which causes the feces to be bulky, foul smelling, foamy and greasy. Another clinical effect of malabsorption is seen in the failure of the newborn infant with cystic fibrosis of the pancreas to regain birth weight in the first 10 days of life. In the absence of other evidence of disease, this is a sign suggestive of pancreatic failure.
- Copyright © 1957 by the American Academy of Pediatrics