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（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AT患者的横断面队列。在18岁以下的患者中，年龄与累积AT评分有明显的相关性。2)我们注意到神经系统出现的平均年龄与诊断的平均年龄之间存在长度延迟。我们已经分析了延误的原因及其后果。3)我们正在调查所有患者是否存在机会性感染和免疫并发症。4)我们注意到在一个亚组患者中存在明显的营养缺乏，并正在寻找与神经功能障碍的相关性。5)我们注意到肺部疾病的严重程度与免疫缺陷的存在之间很少或没有相关性。相反，肺部疾病和吞咽问题之间似乎存在关联。

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 AT patients. Among patients less than 18 years of age there is a clar correlation between age and cumulative AT score. 2) We have noted that there is length delay between average 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.