CAMP STIMULATED SWEAT RATE IN CYSTIC FIBROSIS

本项目的目标是开发一种环腺苷酸（cAMP）- 刺激的“出汗率”测试，将完全区分 功能性、部分功能性和非功能性形式的囊性 纤维化跨膜传导调节因子（CFTR）。 汗液产生 可被胆碱能和肾上腺素能激动剂刺激。 收集 胆碱能刺激汗液及随后的汗液测量 氯化物浓度是标准诊断测试的基础， 囊性纤维化（CF），毛果芸香碱离子电渗汗试验。 用毛果芸香碱刺激汗液产生导致初始 在汗腺中产生等渗的分泌物。 在非CF 患者，当分泌物穿过汗管时，氯化物 重吸收导致低浓度的氯化物在汗水，因为它 出现在皮肤上。 这种氯化物再吸收依赖于 功能性CFTR的存在。 在缺乏功能性CFTR的CF患者中， 汗液中的氯化物浓度仍然很高，与大多数人不同，但 不是所有的CF患者都有CF。 然而，这项技术并不 区分CFTR突变的杂合子携带者与非携带者， 汗液中的氯离子浓度也与疾病无关 严重性。

The goal of this project is the development of a cyclic-AMP(cAMP)- stimulated "sweat rate" test that will discriminate between fully functional, partially functional, and non-functional forms of the Cystic Fibrosis Transmembrane Conductance Regulator(CFTR). Sweat production can be stimulated by both cholinergic & adrenergic agonists. Collection of cholinergic stimulated sweat & the subsequent measurement of sweat cholride concentration is the basis of a standard diagnostic test for cystic fibrosis (CF), the pilocarpine iontophoresis sweat test. Stimulation of sweat production with pilocarpine leads to initial production of an isotonic secretion in the sweat gland. In non-CF patients, as the secretion traverses the sweat duct, chloride is reabsorbed leading to low concentrations of chloride in sweat as it appears on the skin. This chloride resorption is dependent on the presence of functional CFTR. In CF patients, who lack functional CFTR, the sweat chloride concentration remains high, & distinguishes most, but not all, CF from non-CF patients. However, this technique does not distinguish heterozygote carriers of CFTR mutations from non-carriers, nor does the sweat chloride concentration correlate with disease severity.