Physiological Measurements Confirming the Diagnosis of Cystic Fibrosis: the Sweat Test and Measurements of Transepithelial Potential Difference

Summary 

Post-natal screening allied with genetic mutation testing has altered our perception of cystic fibrosis (CF) as a clinical entity. Increasingly, infants identified through screening programmes have few or no symptoms or present with atypical forms of the disease. We review how the sweat test has evolved to be the gold standard for confirming the diagnosis of CF and examine its limitations. Other physiological measurements, including nasal potential difference and intestinal current measurement, which might aid in establishing the diagnosis, particularly in patients exhibiting a mild phenotype, are also considered.

Keywords: cystic fibrosis, diagnosis, sweat test, nasal potential difference, intestinal current measurement