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.
D000136:Acid-Base Equilibrium; D000293:Adolescent; D000328:Adult; D000818:Animals; D002648:Child; D002675:Child, Preschool; D002923:Cilia / Q000502:physiology*; D003550:Cystic Fibrosis / Q000097:blood / Q000175:diagnosis* / Q000235:genetics / Q000382:microbiology; D004573:Electrolytes / Q000032:analysis; D005260:Female; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007070:Immunoglobulin A / Q000032:analysis; D007074:Immunoglobulin G / Q000032:analysis; D007075:Immunoglobulin M / Q000032:analysis; D008297:Male; D010375:Pedigree; D011817:Rabbits; D012129:Respiratory Function Tests; D012712:Serum Globulins; D013183:Sputum / Q000382:microbiology; D013546:Sweating; D014132:Trachea / Q000502:physiology
D004573:Electrolytes; D007070:Immunoglobulin A; D007074:Immunoglobulin G; D007075:Immunoglobulin M; D012712:Serum Globulins