ETIOLOGY OF PULMONARY DISEASE IN ATAXIA TELANGIECTASIA PATIENTS

我们正在更好地定义毛细血管扩张性共济失调的自然历史 (At)。1)我们开发了一套临床评分系统，并应用于 该系统用于AT患者的横断面队列。在患者中较少 在18岁以上的人中，年龄和 累计AT分数。2)我们注意到存在长度延迟 神经系统出现的平均年龄和平均年龄 诊断的结果。我们已经分析了延误的原因和原因。 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)我们有 在一组患者中发现了严重的营养缺乏 并正在寻找与神经功能障碍的相关性。5)我们 注意到肺部疾病严重程度之间几乎没有相关性 疾病和免疫缺陷的存在。相反，似乎有 肺部疾病与吞咽问题的相关性。

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.