Role of CFTR mutation analysis in the diagnostic algorithm for cystic fibrosis

被引:12
|
作者
Ratkiewicz, Michelle [1 ,3 ]
Pastore, Matthew [1 ,4 ]
McCoy, Karen Sharrock [1 ,3 ]
Thompson, Rohan [1 ,3 ]
Hayes, Don, Jr. [1 ,2 ,3 ]
Sheikh, Shahid Ijaz [1 ,3 ]
机构
[1] Ohio State Univ, Dept Pediat, Coll Med, Columbus, OH 43210 USA
[2] Ohio State Univ, Coll Med, Dept Internal Med, Columbus, OH 43210 USA
[3] Nationwide Childrens Hosp, Sect Pulm Med, ED 444 Wolfe Educ Bldg,700 Childrens Dr, Columbus, OH 43205 USA
[4] Nationwide Childrens Hosp, Sect Human & Mol Genet, ED 444 Wolfe Educ Bldg,700 Childrens Dr, Columbus, OH 43205 USA
关键词
CFTR; cystic fibrosis; sweat chloride; DISEASES; GENE;
D O I
10.1007/s12519-017-0015-8
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
The cystic fibrosis transmembrane conductance regulator (CFTR) gene mutation identification is being used with increased frequency to aid in the diagnosis of cystic fibrosis (CF) in those suspected with CF. Aim of this study was to identify diagnostic outcomes when CFTR mutational analysis was used in CF diagnosis. CFTR mutational analysis results were also compared with sweat chloride results. This study was done on all patients at our institution who had CFTR mutation analysis over a sevenyear period since August 2006. A total of 315 patients underwent CFTR mutational analysis. Fifty-one (16.2%) patients had two mutations identified. Among them 32 had positive sweat chloride levels (ae<yen>60 mmol/L), while seven had borderline sweat chloride levels (40-59 mmol/L). An additional 70 patients (22.3%) had only one mutation identified. Among them eight had positive sweat chloride levels, and 17 had borderline sweat chloride levels. Fifty-five patients (17.5%) without CFTR mutations had either borderline (n=45) or positive (n=10) sweat chloride results. Three patients with a CF phenotype had negative CFTR analysis but elevated sweat chloride levels. In eighty-three patients (26.4%) CFTR mutational analysis was done without corresponding sweat chloride testing. Although CFTR mutation analysis has improved the diagnostic capability for CF, its use either as the first step or the only test to diagnose CFTR dysfunction should be discouraged and CF diagnostic guidelines need to be followed.
引用
收藏
页码:129 / 135
页数:7
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