Application of the cilia dyskinesis test in the diagnosis of cystic fibrosis in an adolescent.

In certain cases of obscure chronic lung disease, the possibility of a 
genetic disorder, such as cystic fibrosis of the pancreas, should be 
considered. When the genetic defect fails to cause pancreatic involvement, the 
partial expression of cystic fibrosis is encountered. Elevation of sweat electrolyte 
levels is not sufficient to confirm the diagnosis of cystic fibrosis 
in adults since normal levels vary widely in both adolescents and 
adults. Other tests should, therefore, be utilized. The cilia dyskinesis test 
is positive in both homozygous and heterozygous patients with cystic fibrosis. 
Utilization of this technique in a family study confirmed the diagnosis 
of partial expression of cystic fibrosis in an adolescent female. 