Measurement of Airway Ion Transport Assists the Diagnosis of Cystic Fibrosis

The nasal potential difference (PD) demonstrates the increased Na absorption and decreased Cl secretion typically found in cystic fibrosis (CF). It provides useful information for diagnostic purposes and measures the effect of new treatments on the ion transport defects found in CF. This study summarizes the nasal PD results in the respiratory tract of different groups of subjects, examines the responses in squamous epithelia and evaluates new ways to consider nasal PD results. Nasal PD was tested using the standard protocol of baseline, amiloride, low chloride, and isoproterenol solutions in 40 healthy non-CF volunteers, 46 CF subjects, and 78 subjects referred for investigation of possible CF. Nasal PD was also measured in the squamous epithelium at the anterior nares in six non-CF subjects. Baseline PD was elevated in the CF (47.5 (1.7) mV) compared with non-CF subjects: (14.0 (0.8) mV, P < 0.00001). Combined [CI + Isop] responses were smaller in the CF (-0.1 (0.4) mV) compared with the non-CF subjects (26.2 (1.2) mV, P < 0.00001). In the diagnostic cohort 58 were given a non-CF diagnosis, 16 had CF confirmed, but 4 remained indeterminate. Separate consideration of Na and Cl transport was easily portrayed through X-Y plots. Finally, the nasal PD responses of squamous epithelium showed high baseline values, but little response to amiloride and low chloride solutions. The nasal PD provides useful information in the diagnostic algorithm of CF, and in the delineation of the two ion transport defects characteristically found in the respiratory epithelium. Avoidance of the squamous epithelium remains an important consideration for those performing and interpreting nasal PD responses. Pediatr Pulmonol. 2010; 45:789-795. (C) 2010 Wiley-Liss, Inc.