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1 Dept of Pediatrics, Cystic Fibrosis Center, Shaare Zedek Medical Center, Hebrew University Medical School, Jerusalem, 2 Information Systems Division, Hadassah Hospital, Jerusalem, 3 Cystic Fibrosis Center, Carmel Medical Center, Haifa, 4 Graub Cystic Fibrosis Center, Schneider Children's Hospital, Petach Tiqva, 5 Pediatric Pulmonology Unit, Barzilai Medical Center, Ashkelon, 6 Cystic Fibrosis Center, Rambam Medical Center, Haifa, 7 Cystic Fibrosis Center, Sheba Medical Center, Tel Hashomer, 8 Pulmonary Institute, Hadassah University Hospital, Jerusalem, 9 Pulmonary Institute, Rabin Medical Center, Petach Tiqva, 10 Dept of Pediatrics, Bikur Cholim Hospital, Jerusalem, 11 Dept of Neurophysiology, Hebrew University and 12 Dept of Genetics, Life Sciences Institute, Hebrew University, Jerusalem, Israel
CORRESPONDENCE: E. Kerem, Dept of Pediatric Respiratory Medicine and Cystic Fibrosis Center, Shaare Zedek Medical Center, Jerusalem, 91031, Israel. Fax: 972 26522176
Keywords: atypical phenotype, cystic fibrosis, genotype-phenotype, nasal potential difference
Received: October 25, 2000
Accepted March 6, 2001
This study was supported, in part, by grants from the Chief Scientist of Israeli Health Ministry, The Israeli CF Foundation, and from the Joint Hebrew University – Shaare Zedek Research Fund, The Mirsky Foundation and Balint Charitable Trust
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.
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