Correlation of sweat chloride concentration with classes of the cystic fibrosis transmembrane conductance regulator gene mutations

Objective: To compare differences in epithelial chloride conductance according to class of mutation of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Methods: We evaluated the relationship between the functional classes of CFTR mutations and chloride conductance using the first...

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Bibliographic Details
Published in:The Journal of pediatrics 1995-11, Vol.127 (5), p.705-710
Main Authors: Wilschanski, Michael, Zielenski, Julian, Markiewicz, Danuta, Tsui, Lap-Chee, Corey, Mary, Levison, Henry, Durie, Peter R.
Format: Article
Language:English
Subjects:
Biological and medical sciences
Child
Child, Preschool
Chlorides - analysis
Cystic Fibrosis - classification
Cystic Fibrosis - genetics
Cystic Fibrosis - metabolism
Cystic Fibrosis Transmembrane Conductance Regulator - classification
Cystic Fibrosis Transmembrane Conductance Regulator - genetics
Errors of metabolism
Genes, Regulator - genetics
Genotype
Heterozygote
Homozygote
Humans
Medical sciences
Metabolic diseases
Miscellaneous hereditary metabolic disorders
Mutation
Phenotype
Retrospective Studies
Sweat - chemistry
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Summary:Objective: To compare differences in epithelial chloride conductance according to class of mutation of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Methods: We evaluated the relationship between the functional classes of CFTR mutations and chloride conductance using the first diagnostic sweat chloride concentration in a large cystic fibrosis (CF) population. Results: There was no difference in sweat chloride value between classes of CFTR mutations that produce no protein (class I), fail to reach the apical membrane because of defective processing (class II), or produce protein that fails to respond to cyclic adenosine monophosphate (class III). Those mutations that produce a cyclic adenosine monophosphate-responsive channel with reduced conductance (class IV) were associated with a significantly lower, intermediate sweat chloride value. However, patients with the mutations that cause reduced synthesis or partially defective processing of normal CFTR (class V) had sweat chloride concentrations similar to those in classes I to III. Conclusion: Studies of differences in chloride conductance between functional classes of CFTR mutations provide insight into phenotypic expression of the disease. (J P EDIATR 1995;127:705-10)
ISSN:0022-3476
1097-6833
DOI:10.1016/S0022-3476(95)70157-5