Nasal potential difference measurements in patients with atypical cystic fibrosis

M. Wilschanski, H. Famini, N. Strauss-Liviatan, J. Rivlin, H. Blau, H. Bibi, L. Bentur, Y. Yahav, H. Springer, M. R. Kramer, A. Klar, A. LLani, B. Kerem, E. Kerem

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89 Scopus citations

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.

Original languageEnglish
Pages (from-to)1208-1215
Number of pages8
JournalEuropean Respiratory Journal
Volume17
Issue number6
DOIs
StatePublished - 16 Aug 2001
Externally publishedYes

Keywords

  • Atypical phenotype
  • Cystic fibrosis
  • Genotype-phenotype
  • Nasal potential difference

ASJC Scopus subject areas

  • Pulmonary and Respiratory Medicine

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