title: Nasal potential difference measurements in patients with atypical cystic fibrosis.
abstract: The diagnosis of cystic fibrosis (CF) is based on characteristic clinical and laboratory findings. However, a subgroup of patients present with an atypical phenotype that comprises partial CF phenotype, borderline sweat tests and one or even no common cystic fibrosis transmembrane conductance regulator (CFTR) mutations. The aim of this study was to evaluate the role of nasal potential difference (PD) measurements in the diagnosis of CF patients with an atypical presentation and in a population of patients suspected to have CF. Nasal PD was measured in 162 patients from four different groups: patients with classical CF (n = 31), atypical phenotype (n = 11), controls (n = 50), and patients with questionable CF (n = 70). The parameter, or combination of nasal PD parameters was calculated in order to best discriminate all CF patients (including atypical CF) from the non-CF group. The patients with atypical CF disease had intermediate values of PD measurements between the CF and non-CF groups. The best discriminate model that assigned all atypical CF patients as CF used: e(response to chloride-free and isoproterenol/response to amiloride) with a cut-off >0.70 to predict a CF diagnosis. When this model was applied to the group of 70 patients with questionable CF, 24 patients had abnormal PD similar to the atypical CF group. These patients had higher levels of sweat chloride concentration and increased rate of CFTR mutations. Nasal potential difference is useful in diagnosis of patients with atypical cystic fibrosis. Taking into account both the sodium and chloride transport elements of the potential difference allows for better differentiation between atypical cystic fibrosis and noncystic fibrosis patients. This calculation may assist in the diagnostic work-up of patients whose diagnosis is questionable.
authors.affiliation: Dept of Pediatrics, Shaare Zedek Medical Center, Hebrew University Medical School, Jerusalem, Israel.
authors.forename: M
authors.initials: M
authors.lastname: Wilschanski
authors.forename: H
authors.initials: H
authors.lastname: Famini
authors.forename: N
authors.initials: N
authors.lastname: Strauss-Liviatan
authors.forename: J
authors.initials: J
authors.lastname: Rivlin
authors.forename: H
authors.initials: H
authors.lastname: Blau
authors.forename: H
authors.initials: H
authors.lastname: Bibi
authors.forename: L
authors.initials: L
authors.lastname: Bentur
authors.forename: Y
authors.initials: Y
authors.lastname: Yahav
authors.forename: H
authors.initials: H
authors.lastname: Springer
authors.forename: M R
authors.initials: MR
authors.lastname: Kramer
authors.forename: A
authors.initials: A
authors.lastname: Klar
authors.forename: A
authors.initials: A
authors.lastname: Ilani
authors.forename: B
authors.initials: B
authors.lastname: Kerem
authors.forename: E
authors.initials: E
authors.lastname: Kerem
mesh_terms: D000293:Adolescent; D000328:Adult; D003550:Cystic Fibrosis / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D008564:Membrane Potentials / Q000502:physiology*; D009297:Nasal Mucosa / Q000503:physiopathology*; D010641:Phenotype; D011237:Predictive Value of Tests; D012016:Reference Values
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator