Am. J. Respir. Crit. Care Med., Volume 165, Number 6, March 2002, 757-761

Mutations of the Cystic Fibrosis Gene and Intermediate Sweat Chloride Levels in Children

PATRICK LEBECQUE, TERESINHA LEAL, CHRISTIANE DE BOECK, MARTINE JASPERS, HARRY CUPPENS, and JEAN-JACQUES CASSIMAN

Department of Pediatrics, Center for Human Genetics, Gasthuisberg, Katholieke Universiteit te Leuven, Leuven, Belgium; and Departments of Pediatrics and Medical Biology, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium

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.

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