World Journal of Pediatrics

, Volume 13, Issue 2, pp 129–135 | Cite as

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

  • Michelle Ratkiewicz
  • Matthew Pastore
  • Karen Sharrock McCoy
  • Rohan Thompson
  • Don HayesJr.
  • Shahid Ijaz Sheikh
Original Article

Abstract

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 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.

Methods

This study was done on all patients at our institution who had CFTR mutation analysis over a sevenyear period since August 2006.

Results

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 (≥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.

Conclusions

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.

Key words

CFTR cystic fibrosis sweat chloride 

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Copyright information

© Children's Hospital, Zhejiang University School of Medicine and Springer-Verlag Berlin Heidelberg 2017

Authors and Affiliations

  • Michelle Ratkiewicz
    • 1
    • 3
  • Matthew Pastore
    • 1
    • 4
  • Karen Sharrock McCoy
    • 1
    • 3
  • Rohan Thompson
    • 1
    • 3
  • Don HayesJr.
    • 1
    • 2
    • 3
  • Shahid Ijaz Sheikh
    • 1
    • 3
  1. 1.Department of Pediatricsthe Ohio State University College of MedicineColumbusUSA
  2. 2.Department of Internal Medicinethe Ohio State University College of MedicineColumbusUSA
  3. 3.Section of Pulmonary Medicine, Department of Pediatrics, ED 444 Wolfe Education BuildingNationwide Children’s HospitalColumbusUSA
  4. 4.Section of Human and Molecular GeneticsNationwide Children’s HospitalColumbusUSA

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