PMID: 9163660May 1, 1997Paper

Nasal potential difference in cystic fibrosis patients presenting borderline sweat test

The European Respiratory Journal
A DelmarcoG Mastella

Abstract

The diagnosis of cystic fibrosis (CF) can be difficult if the sweat test and routine deoxyribonucleic acid (DNA) analysis are inconclusive. Under these circumstances, measurement of nasal potential difference (NPD) was proposed as a complementary diagnostic tool, as demonstrated in subjects bearing the G551S or 3849+10KbC-->T mutations. The purpose of the present study was to verify the diagnostic value of this technique in CF patients with a borderline sweat test. NPD was measured in 18 patients with a borderline sweat test, in whom CF diagnosis was based on the presence of one CF gene mutation in each chromosome (CF borderline). These patients were compared both to non-CF controls and CF patients with an abnormal sweat test (CF controls). Basal NPD values of CF borderline patients (mean value -39+/-6 mV, range -29 to -52 mV; n=18) were in the pathological range of CF controls (-39+/-8 mV, range -28 to -57 mV; n=37), and both were statistically different from values obtained in non-CF controls (-15+/-4 mV, range -6 to -23 mV; n=24; p<0.0001). Mutation analysis confirmed a high frequency of the 3849+10KbC-->T mutation in this group of CF borderline patients (positive in 14 out of 18 subjects), whereas other mutations, such as A...Continue Reading

Citations

Jun 18, 2011·Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society·K De BoeckUNKNOWN EuroCareCF WP3 Group on CF diagnosis
Jun 17, 2011·Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society·C BombieriC Ferec
Jun 5, 2003·Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver·L FrulloniG Cavallini
Oct 25, 2003·Pancreas·Raffaele PezzilliLucio Gullo
Nov 1, 2005·Pancreas·Lucio GulloRaffaele Pezzilli
Dec 31, 2005·Thorax·K De BoeckUNKNOWN Diagnostic Working Group
Sep 10, 1998·American Journal of Respiratory and Critical Care Medicine·U PradalG Mastella
Jan 11, 2005·American Journal of Respiratory and Critical Care Medicine·Jane C DaviesEric W F W Alton
Jun 12, 2010·American Journal of Respiratory and Critical Care Medicine·Isabelle Sermet-GaudelusAleksander Edelman
Oct 17, 2012·American Journal of Respiratory and Critical Care Medicine·Theresa A Laguna
Mar 15, 2003·Clinical Chemistry and Laboratory Medicine : CCLM·Teresinha LealPierre Wallemacq
Sep 20, 2005·Journal of Chemotherapy·U PradalG Cazzola
May 13, 2014·Clinical Pediatrics·Michael K TaylorTheresa A Laguna
Apr 25, 2008·Pediatric Pulmonology·Ranit JaronMichael Wilschanski

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