ETIOLOGY OF PULMONARY DISEASE IN ATAXIA TELANGIECTASIA PATIENTS

我们更好地定义了共济失调-毛细血管扩张症（A-T）的自然史。 1)我们开发了一个临床评分系统，并将该系统应用于 一个A-T患者的横断面队列。 小于18岁的患者 年龄与累积A-T之间存在明显的相关性 得分2)我们已经注意到，在年龄和年龄之间有一个漫长的延迟， 神经系统症状出现的时间和平均诊断年龄。 我们有 分析了延误的原因及其后果。3)我们 调查所有患者是否存在机会性感染， 免疫的并发症。4)我们注意到， 在一个亚组的病人的缺陷，并正在寻找相关性 患有神经功能障碍5)我们注意到， 肺部疾病的严重程度和免疫缺陷的存在之间的关系。 相反，肺部疾病与 吞咽困难。

We are better defining the natural history of Ataxia-Telangiectasia (A-T). 1) We have developed a clinical scoring system and applied that system to a cross-sectional cohort of A-T patients. Among patients less than 18 years of age there is a clear correlation between age and cumulative A-T score. 2) We have noted that there is a lengthy delay between agerage age at which neurologic systoms appear and average age of diagnosis. We have analyzed the reasons for the delay and its consequences. 3) We are surveying all patients for the presence of opportunistic infections and complications of immunization. 4) We have noted significant nutritional deficiencies in a sub-group of patients and are looking for correlations with neurologic dysfunction. 5) We have noted little or no correlation between severity of pulmonary disease and presence of immunodeficiency. Instead, there appears to be correlation between pulmonary disease and problems with swallowing.