ETIOLOGY OF PULMONARY DISEASE IN ATAXIA TELANGIECTASIA PATIENTS

共济失调毛细血管扩张患者肺部疾病的病因学

• 批准号: 6114239
• 负责人: Howard M. Lederman
• 金额: $ 2.06万
• 依托单位: JOHNS HOPKINS UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 1998
• 资助国家: 美国
• 起止时间: 1998-12-01 至 1999-11-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6114239
• 关键词: adolescence (12-20); age difference; ataxia telangiectasia; child (0-11); clinical research; developmental neurobiology; disease /disorder etiology; human subject; lung disorder; malnutrition; medical complication; neuromuscular disorder diagnosis; nutrition related tag; opportunistic infections; respiratory disorder epidemiology; respiratory infections; swallowing

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.

我们更好地定义了共济失调的自然历史 （在）。 1）我们已经开发了一个临床评分系统，并应用了 系统到患者的横截面队列。 在患者中较少 超过18岁的年龄和年龄之间有明显的相关性 分数累积。 2）我们注意到有长度延迟 在出现神经系统的平均年龄和平均年龄之间 诊断。 我们已经分析了延迟及其的原因 结果。 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 注意到患者亚组的营养缺乏症明显 并正在寻找与神经功能障碍的相关性。 5）我们 注意到肺的严重程度很少或没有相关性 疾病和免疫缺陷的存在。 相反，似乎有 肺部疾病与吞咽问题之间的相关性。