Document Detail

Nasal potential difference measurements in patients with atypical cystic fibrosis.
MedLine Citation:
PMID:  11491166     Owner:  NLM     Status:  MEDLINE    
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.
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 Ilani; B Kerem; E Kerem
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  The European respiratory journal     Volume:  17     ISSN:  0903-1936     ISO Abbreviation:  Eur. Respir. J.     Publication Date:  2001 Jun 
Date Detail:
Created Date:  2001-08-08     Completed Date:  2001-12-18     Revised Date:  2013-05-23    
Medline Journal Info:
Nlm Unique ID:  8803460     Medline TA:  Eur Respir J     Country:  Denmark    
Other Details:
Languages:  eng     Pagination:  1208-15     Citation Subset:  IM    
Dept of Pediatrics, Shaare Zedek Medical Center, Hebrew University Medical School, Jerusalem, Israel.
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MeSH Terms
Cystic Fibrosis / diagnosis*,  genetics,  physiopathology
Cystic Fibrosis Transmembrane Conductance Regulator / genetics
Membrane Potentials / physiology*
Nasal Mucosa / physiopathology*
Predictive Value of Tests
Reference Values
Reg. No./Substance:
0/CFTR protein, human; 126880-72-6/Cystic Fibrosis Transmembrane Conductance Regulator

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