Abstract
It has frequentely been suggested that MV gene carriers are not completely healthy, and that cases occur among them exhibiting clinical symptoms of MV of variable severity. Without an appropriate examination method, this could not be proved so far. We recently found that the bromide index is suitable for demonstration of MV heterozygous state. With some modification, the blood: sweat bromide ratio after per os NaBr administration is determined with an ion-selective electrode. With this method, MV gene carrying was confirmed in 24 children with chronic diseases of the respiratory tract. Such an MV genotype of the children was supported by similar examinations on the parents. The clinical symptoms were similar to those of classical MV, with varying characteristics and severities. In 5 of the 24 definitely heterozygous MV cases the sweat Cl− concentration was above 60 mEq/1. These corresponded clinicaly to Schwachman's incomplete MV criterion. Apart from the above cases the MV heterozygous state was confirmed in two neonates considered pseudopositive.
Log in or create a free account to read this content
Gain free access to this article, as well as selected content from this journal and more on nature.com
or
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Gyurkovits, K., Márkus, V., László, A. et al. CLINICAL SYMPTOMS OF MUCOVISCIDOSIS /MV/IN GENE CARRIERS. IS INCOMPLETE MV A HETEROZYGOUS STATE?. Pediatr Res 9, 868 (1975). https://doi.org/10.1203/00006450-197511000-00095
Issue date:
DOI: https://doi.org/10.1203/00006450-197511000-00095
