摘要
囊性纤维化(CF)的诊断是困难的,如果汗液试验和常规脱氧核糖核酸(DNA)分析不确定。在这种情况下,测量鼻电位差(NPD)被提出作为一种补充诊断工具,在G551S或3849+10KbC- >T突变的受试者中证明了这一点。本研究的目的是通过边缘性汗液试验验证该技术对CF患者的诊断价值。对18名边缘性汗液试验患者进行NPD测量,其中CF诊断是基于每条染色体中存在一个CF基因突变(CF边界)。将这些患者与非CF对照和有异常汗液试验的CF患者(CF对照)进行比较。CF交界型患者的基本NPD值(均值-39+/-6 mV,范围-29 ~ -52 mV;n=18)均在CF对照组病理范围(-39+/-8 mV,范围-28 ~ -57 mV;n=37),两者与非cf对照组的值有统计学差异(-15+/-4 mV,范围-6至-23 mV;n = 24;p < 0.0001)。 Mutation analysis confirmed a high frequency of the 3849+10KbC-->T mutation in this group of CF borderline patients (positive in 14 out of 18 subjects), whereas other mutations, such as AF508, Q552X, N1303K and R1162X, were also found to be associated with this atypical CF phenotype. These results confirm the presence of pathological values of basal NPD in CF patients with borderline sweat test, and also extend this finding to subjects bearing genotypes other than the G551S and 3849+10KbC-->T mutations. The present findings, therefore, confirm the usefulness of measurement of basal nasal potential difference in all those patients in whom diagnosis of cystic fibrosis can be suspected but the sweat test remains inconclusive.