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的自然史 （AT）。 1)我们开发了一个临床评分系统，并应用于 系统到AT患者的横截面队列。 在患者中， 18岁以上，年龄与 累积AT评分。 2)我们已经注意到， 神经系统出现的平均年龄和 诊断。 我们分析了延误的原因， 后果 3)我们正在调查所有病人是否存在 机会性感染和免疫并发症。 4)我们有 注意到一个亚组的病人有明显的营养缺乏 正在寻找与神经功能障碍的相关性。 5)我们 已经注意到肺动脉高压的严重程度与 疾病和免疫缺陷的存在。 相反， 肺部疾病和吞咽问题之间的相关性。

We are better defining the natural history of Ataxia Telangiectasia (AT). 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 clear correlation between age and cumulative AT score. 2) We have noted that there is length delay between average age at which neurologic systems 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.