DIAGNOSTIC AND CLINICAL CHARACTERIZATION OF PATIENTS WITH UNUSUAL GENETIC DIS

这个子项目是许多研究子项目中的一个 由NIH/NCRR资助的中心赠款提供的资源。子项目及 研究者（PI）可能从另一个NIH来源获得了主要资金， 因此可以在其他CRISP条目中表示。所列机构为 研究中心，而研究中心不一定是研究者所在的机构。 具有包括原发性纤毛运动障碍（PCD）、变异性囊性纤维化（CF）和假性醛固酮减少症（PHA）在内的粘膜纤毛清除缺陷的患者反映了气道宿主防御的遗传异常，并导致表现为慢性中耳炎、鼻窦炎和支气管炎的气道慢性感染。 作为四个气道研究中心（ARC）的遗传性疾病的粘液纤毛清除联盟，一个网站的网络创建研究罕见的气道疾病，我们计划开发一个一致的，系统的方法来评估这些患者的慢性气道疾病，这将产生更精确的诊断在个别患者，并将与更好的诊断技术，包括基因检测的发展。 在本方案中，我们期望对这些患者的系统评价以及对表型的严格的横截面和纵向比较将导致临床护理的循证标准和新治疗方法的鉴定。

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. Patients with defects in mucociliary clearance, including primary ciliary dyskinesia (PCD), variate cystic fibrosis (CF), and pseudohypoaldosteronism (PHA) reflect genetic abnormalities in airway host defense, and result in chronic infection of the airways manifested as chronic otitis media, sinusitis, and bronchitis. As one of four Airway Research Centers (ARC) for the Genetic Disorders of Mucociliary Clearance Consortium, a network of sites created to study rare disease of the airways, we plan to develop a consistent, systematic approach to evaluation of these patients with chronic airways disease, which will yield more precise diagnoses in individual patients, and will be associated with development of better diagnostic techniques, including genetic testing. In this protocol, we expect that the systematic evaluation of these patients and a rigorous cross-sectional and longitudinal comparison of the phenotypes will lead to evidence-based standards of clinical care and identification of novel therapeutic approaches.