Red-cell transport defect in patients with cystic fibrosis and in their parents.
The ouabain-sensitive and the ethacrynic acid-sensitive sodium efflux from erythrocytes of patients with cystic fibrosis are both decreased. Furthermore, the ouabain-sensitive adenosine triphosphatase activity is diminished in the red blood cell ghosts of these patients. Perhaps of greater significance is the fact that ethacrynic acid-sensitive sodium efflux is clearly diminished in the erythrocytes of the asymptomatic parents of these sick children. This defect in sodium transport may be valuable for detecting the heterozygous carrier state.
D000251:Adenosine Triphosphatases / Q000097:blood; D001693:Biological Transport, Active; D003376:Counseling; D003550:Cystic Fibrosis / Q000097:blood / Q000378:metabolism*; D004912:Erythrocytes / Q000201:enzymology / Q000378:metabolism*; D004976:Ethacrynic Acid / Q000494:pharmacology; D006801:Humans; D008659:Metabolic Diseases; D008967:Molecular Biology; D010042:Ouabain / Q000494:pharmacology; D012964:Sodium / Q000097:blood / Q000378:metabolism*
D010042:Ouabain; D012964:Sodium; D000251:Adenosine Triphosphatases; D004976:Ethacrynic Acid