RARE GENETIC DISORDERS OF THE AIRWAYS

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的研究机构。 具有从气道清除粘液分泌物的缺陷（缺陷“粘液纤毛清除”）的患者，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），反映了气道宿主防御的遗传缺陷，并且通常导致气道的慢性感染，表现为慢性中耳炎、鼻窦炎和支气管炎。患有这些传导气道和鼻窦疾病的患者延迟（或不正确）诊断，因为诊断测试不容易获得。这些患者的临床疾病也可能没有得到最佳的管理，因为这些疾病的原因并不明确，治疗方案通常不是由循证医学驱动的。 目前的方案旨在采用系统的方法对这些慢性气道疾病患者进行诊断评价，这将在个体患者中产生更精确的诊断，并将与更好的诊断技术（包括基因检测）的开发相关。 此外，我们将比较/对比这些疾病的临床特征（表型）。 在本方案中，对这些患者的系统评价和对临床特征的严格横断面比较将更好地了解这些疾病的临床疾病性质。 反过来，这将不仅导致更好的临床护理标准，而且还将有助于确定新的治疗方法。 我们将成为四个气道研究中心（ARC）之一，形成一个地理上分散的临床研究中心网络，研究气道的罕见疾病。 包括查佩尔山的北卡罗来纳州大学、圣路易斯的华盛顿大学、西雅图的华盛顿大学和科罗拉多大学的儿童医院在内的4个研究中心在NIH资助的罕见疾病临床研究网络（RDCRN）的保护伞下组成了纤毛清除遗传疾病联盟。 RDCRN网站是http://www.rarediseasesnetwork.org/。 我们打算成为研究和护理PCD和其他罕见气道疾病患者的“卓越中心”。

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 clearance of mucus secretions from the airways (defective "mucociliary clearance"), including primary ciliary dyskinesia (PCD), variant cystic fibrosis (CF), and pseudohypoaldosteronism (PHA) reflect genetic defects in airway host defense, and typically result in chronic infection of the airways manifest as chronic otitis media, sinusitis, and bronchitis. Patients with these disorders of the conducting airways and sinuses have delayed (or incorrect) diagnoses, because diagnostic tests are not readily available. These patients may also have sub-optimal management of their clinical disease, because the cause of these disorders is not well-defined, and treatment regimens are usually not driven by evidence-based medicine. This current protocol is designed to employ a systematic approach to the diagnostic 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 addition, we will compare/contrast clinical features (phenotype) across these disorders. In this protocol, the systematic evaluation of these patients and a rigorous cross-sectional comparison of the clinical features will provide better understanding of the nature of the clinical disease of these disorders. In turn, this will lead not only to a better standard of clinical care, but will also assist in the identification of novel therapeutic approaches. We will be one of four Airway Research Center (ARC) sites to form a network of geographically-dispersed clinical research centers to study rare diseases of the airways. The 4 sites which include the University of North Carolina at Chapel Hill, Washington University in St. Louis, University of Washington in Seattle, and The Children's Hospital at the University of Colorado have formed the Genetic Disorders of Mucociliary Clearance Consortium under the umbrella of the Rare Diseases Clinical Research Network (RDCRN) which is funded by the NIH. The RDCRN website is http://www.rarediseasesnetwork.org/. We intend to become "Centers of Excellence" for the research and care of persons with PCD and other rare airway diseases.