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Title: Mutations of the cystic fibrosis gene and intermediate sweat chloride levels in children
Authors: Lebecque, Patrick ×
Leal, Teresinha
De Boeck, Christiane
Jaspers, Martine
Cuppens, Harry
Cassiman, Jean-Jacques #
Issue Date: Mar-2002
Series Title: American Journal of Respiratory and Critical Care Medicine vol:165 issue:6 pages:757-61
Abstract: The incidence of mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in children with intermediate sweat chloride levels is unknown. The results of 2,349 sweat tests performed at two Belgian university hospitals were reviewed. Intermediate chloride concentrations were observed in 98 subjects (4.2%), 68 being younger than 18 years of age. Forty-three children could be traced and their parents agreed to take part in the study. Exhaustive analysis of the CFTR gene disclosed a total of 24 putative mutations (27.9%). Three subjects were found to carry only one CFTR mutation, whereas 10 harbored one mutation on both CFTR genes. These 10 children were investigated in detail. At the time of writing, the mean age (+/-SD) of this group is 8.9 years (+/-4.2 years). Nine children are pancreatic sufficient. Three have been asymptomatic for more than two years, whereas the others display, to different degrees, clinical features suggestive of CF. The sweat chloride concentration is slightly higher in this group (39.4 +/- 5.4 mM) than in subjects without CFTR mutation (35.2 +/- 4.4 mM, p < 0.05). The nasal potential difference was abnormal in five of the nine subjects tested. In this study, 23% of children displaying intermediate sweat chloride levels were found to carry a putative mutation on both CFTR genes.
URI: 
ISSN: 1073-449X
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Human Mutations and Polymorphisms Section (-)
Pediatric Pulmonology Section (-)
Forensic Biomedical Sciences
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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