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.
journal_name
Am J Respir Crit Care Medauthors
Lebecque P,Leal T,De Boeck C,Jaspers M,Cuppens H,Cassiman JJdoi
10.1164/ajrccm.165.6.2104073keywords:
subject
Has Abstractpub_date
2002-03-15 00:00:00pages
757-61issue
6eissn
1073-449Xissn
1535-4970journal_volume
165pub_type
杂志文章,多中心研究abstract:RATIONALE:Very little is known about airways that are too small to be visible on thoracic multidetector computed tomography but larger than the terminal bronchioles. OBJECTIVES:To examine the structure of preterminal bronchioles located one generation proximal to terminal bronchioles in centrilobular and panlobular em...
journal_title:American journal of respiratory and critical care medicine
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journal_title:American journal of respiratory and critical care medicine
pub_type: 杂志文章,多中心研究
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更新日期:2018-04-15 00:00:00
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