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

World Journal of Pediatrics 2017年第2期13卷 129-135页

作者： Michelle Ratkiewicz Matthew Pastore karen sharrock mccoy Rohan Thompson Don Hayes Jr. Shahid Ijaz Sheikh Departments of Pediatrics the Ohio State University College of Medicine ColumbusOhioUSA Section of Pulmonary Medicine Nationwide Children's HospitalColumbusOhioUSA Departments of Pediatrics the Ohio State University College of Medicine ColumbusOhioUSA Section of Human and Molecular Genetics Nationwide Children's HospitalColumbusOhioUSA Departments of Pediatrics the Ohio State University College of Medicine ColumbusOhioUSA Internal Medicine the Ohio State University College of Medicine ColumbusOhioUSA Section of Pulmonary Medicine Nationwide Children's HospitalColumbusOhioUSA

Background: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 *** of this study was to identify diagnostic outcomes when CFTR mutational analysis was used in CF *** mutational analysis results were also compared with sweat chloride ***:This study was done on all patients at our institution who had CFTR mutation analysis over a sevenyear period since August ***:A total of 315 patients underwent CFTR mutational ***-one (16.2%) patients had two mutations *** them 32 had positive sweat chloride levels (≥60 mmol/L),while seven had borderline sweat chloride levels (40-59 mmol/L).An additional 70 patients (22.3%) had only one mutation *** them eight had positive sweat chloride levels,and 17 had borderline sweat chloride ***-five patients (17.5%) without CFTR mutations had either borderline (n=45) or positive (n=10) sweat chloride *** patients with a CF phenotype had negative CFTR analysis but elevated sweat chloride *** eighty-three patients (26.4%) CFTR mutational analysis was done without corresponding sweat chloride ***: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.

关键词： CFTR cystic fibrosis sweat chloride

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