Nasal potential difference in cystic fibrosis patients presenting borderline sweat test
نویسندگان
چکیده
منابع مشابه
Nasal potential difference in cystic fibrosis patients presenting borderline sweat test.
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 diagnos...
متن کاملNasal potential difference: a clinical diagnostic test for cystic fibrosis.
Patients with cystic fibrosis (CF) demonstrate a markedly more negative potential difference (PD) across respiratory epithelia than normal or "diseased" controls. A technique is described for the measurement of nasal PD in both children and adults. 145 non-CF subjects showed a mean PD of -19.0 mV (range -2 to -36) in comparison to 60 patients with cystic fibrosis with mean of -46.0 mV (range -3...
متن کاملNasal potential difference measurements in patients with atypical cystic fibrosis.
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 differenc...
متن کاملMeasurement of nasal potential difference in young children with an equivocal sweat test following newborn screening for cystic fibrosis.
BACKGROUND A challenging problem arising from cystic fibrosis (CF) newborn screening is the significant number of infants with hypertrypsinaemia (HIRT) with sweat chloride levels in the intermediate range and only one or no identified CF-causing mutations. OBJECTIVES To investigate the diagnostic value for CF of assessing CF transmembrane conductance regulator (CFTR) protein function by measu...
متن کاملNasal Potential Difference in Cystic Fibrosis considering Severe CFTR Mutations
The gold standard for diagnosing cystic fibrosis (CF) is a sweat chloride value above 60 mEq/L. However, this historical and important tool has limitations; other techniques should be studied, including the nasal potential difference (NPD) test. CFTR gene sequencing can identify CFTR mutations, but this method is time-consuming and too expensive to be used in all CF centers. The present study c...
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ژورنال
عنوان ژورنال: European Respiratory Journal
سال: 1997
ISSN: 0000-0000,0903-1936
DOI: 10.1183/09031936.97.10051145