TRANSEPITHELIAL POTENTIAL DIFFERENCE IN PTS W/ VARIANTS OF CYSTIC FIBROSIS (CF)

该子项目是利用NIH/NCRR资助的中心赠款提供的资源的许多研究子项目之一。子项目和研究者（PI）可能从另一个NIH来源获得主要资金，因此可以在其他CRISP条目中表示。所列机构为中心，不一定是研究者所在机构。鼻电位差测量是一种新的诊断CF的工具。本研究的假设是CFTR中的IV或V类突变将与NPD中的氯离子转运相关。具体目标是：1）将NPD对低氯/异丙肾上腺素/阿米洛利的反应变化幅度与CFTR基因型相关联; 2）扩大对CF中潜在替代标记物与基因型之间关系的理解;并证实NPD测量作为有价值的研究工具的作用。患者由发现CF的一些但不是全部特征的医生转诊，或基于CFTR基因型转诊。

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. Nasal Potenial Difference Measurements are a new diagnostic tool in CF. The hypothesis of this study is that Class IV or V mutations in CFTR will be associated with chloride transport in the NPD. The specific aims are 1) to correlate the magnitude of the change in NPD response to low chloride/isoproterenol/amiloride with CFTR genotype; 2) to expand the understanding of the relationship between potential surrogate markers and genotype in CF; and to substantiate the role of NPD measurement as a valuable research tool. Patients are referred by physicians who find some but not all features of CF, or on the basis of CFTR genotype.