Uncertainty in the diagnosis of cystic fibrosis: possible role of in vivo nasal potential difference measurements.
Uncertainty in the diagnosis of cystic fibrosis: possible role of in vivo nasal potential difference measurements.
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囊性纤维化诊断的不确定性：体内鼻电位差测量的可能作用。
DOI：
10.1016/s0022-3476(98)70345-2
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发表时间：
1998
期刊：
影响因子：
--
通讯作者：
Durie,PR
中科院分区：
文献类型：
--
作者：
Wilson,DC;Ellis,L;Zielenski,J;Corey,M;Ip,WF;Tsui,LC;Tullis,E;Knowles,MR;Durie,PR
尽管进行了广泛的临床评估、多次汗液氯化物测试和基因型分析，囊性纤维化 (CF) 的诊断并不总是确定。我们假设鼻跨上皮电位差测量在这种情况下具有有用的作用。在 11 名未确诊 CF 的患者中，将同步鼻电位差 (PD) 和汗液氯化物测量结果与对照受试者、专性 CF 杂合子和确诊 CF 患者的结果进行比较。两名患者符合 CF 患者的 PD 特征，而九名患者的值与健康对照受试者的值相对应。随后，在两名 PD 测量结果异常的患者中发现了 5-胸苷 (IVS8-5T) CF 基因变异。 （儿科杂志 1998；132：596-9）
The diagnosis of cystic fibrosis (CF) is not always certain, despite extensive clinical evaluation, multiple sweat chloride tests, and genotype analysis. We hypothesized that nasal transepithelial potential difference measurements have a useful role in this situation. In 11 patients without an established diagnosis of CF, results of simultaneous nasal potential difference (PD) and sweat chloride measurements were compared with those from control subjects, obligate CF heterozygotes, and patients with a confirmed diagnosis of CF. Two patients conformed to the PD profile for CF patients, whereas nine had values corresponding to those of the healthy control subjects. Subsequently the 5-thymidine (IVS8-5T) CF gene variant was identified in the two patients with abnormal PD measurements. (J Pediatr 1998;132:596-9)