Fajac I, Hubert D, Bienvenu T, Richaud-Thiriez B, Matran R, Kaplan J C, Dall'Ava-Santucci J, Dusser D J
Dept of Respiratory Physiology, Cochin Hospital, René Descartes University, Paris, France.
Eur Respir J. 1998 Dec;12(6):1295-300. doi: 10.1183/09031936.98.12061295.
This study investigated the relations between nasal transepithelial electric potential difference (PD) and the phenotype and genotype of cystic fibrosis (CF) adult patients. Basal nasal PD was measured in 95 adult CF patients who were classified into three groups of nasal PD (expressed as absolute values) according to the 10th and the 90th percentiles (28.3 and 49.2 mV, respectively), which defined group 1 (nasal PD < or =28.3 mV), group 2 (nasal PD 28.3-49.2 mV) and group 3 (nasal PD > or =49.2 mV). Patients from group 1 had a higher forced vital capacity (FVC) than patients from groups 2 and 3 (76.5+/-22.4 versus 57.4+/-21.2 and 55.7+/-21.1% predicted, respectively, p<0.05) and a higher forced expiratory volume in one second (FEV1) (69.3+/-24.0 versus 42.5+/-22.4 and 42.2+/-21.4% pred, respectively, p<0.01). Among patients with severe mutations (deltaF508 homozygotes, or one deltaF508 mutation plus another "severe" mutation, or two "severe" mutations), patients from group 1 had a higher FVC, FEV1 and arterial oxygen tension than patients from groups 2 and 3 (p<0.05 for each comparison). The results show that in adult cystic fibrosis patients a normal basal nasal potential difference is related to milder respiratory disease, irrespective of the severity of the genotype.
本研究调查了成年囊性纤维化（CF）患者的鼻跨上皮电位差（PD）与表型和基因型之间的关系。对95例成年CF患者测量了基础鼻PD，并根据第10和第90百分位数（分别为28.3和49.2 mV）将其分为三组鼻PD（以绝对值表示），这定义了第1组（鼻PD≤28.3 mV）、第2组（鼻PD 28.3 - 49.2 mV）和第3组（鼻PD≥49.2 mV）。第1组患者的用力肺活量（FVC）高于第2组和第3组患者（分别为预测值的76.5±22.4% 、57.4±21.2%和55.7±21.1%，p<0.05），且一秒用力呼气容积（FEV1）更高（分别为预测值的69.3±24.0% 、42.5±22.4%和42.2±21.4%，p<0.01）。在具有严重突变的患者中（ΔF508纯合子，或一个ΔF508突变加另一个“严重”突变，或两个“严重”突变），第1组患者的FVC、FEV1和动脉血氧张力高于第2组和第3组患者（每次比较p<0.05）。结果表明，在成年囊性纤维化患者中，正常的基础鼻电位差与较轻的呼吸系统疾病相关，与基因型的严重程度无关。
