Bott L, Lebreton Jp, Thumerelle C, Cuvellier Jc, Deschildre A, Sardet A
Service de pédiatrie, CHU de Poitiers, Poitiers, France.
Acta Paediatr. 2007 Jul;96(7):1021-4. doi: 10.1111/j.1651-2227.2007.00338.x. Epub 2007 May 24.
Ataxia-telangiectasia (AT) is a multi-systemic disease caused by mutational inactivation of the ATM gene. We report a retrospective study of lung disease in 15 patients.
A diagnosis of AT was made if the patient met the following criteria: neurological features and at least one the following: oculo-cutaneous telangiectasia, elevated serum alpha-feto-protein level.
Recurrent sino-pulmonary infections were usually present in 11 of the cases and occurred during the first 2 years of life. Other lung injuries noted were bronchiectasis, obstruction and restriction of the airways, fibrosis, pneumothorax and haemoptysis. Eleven children had immunodeficiencies.
Recurrent sino-pulmonary manifestations precede neurological complications, but the severity of neuro-degeneration and pulmonary disease were not correlated. Pulmonary status was a prognosis factor. Immunodeficiency was the main, but not the only, aetiology for lung disease in AT.
There is little dispute over the role of ATM in lung and respiratory epithelium. To reduce the morbidity associated with AT, there needs to be greater awareness of respiratory complications. Early management and monitoring lung function is necessary to minimize lung damage.
共济失调毛细血管扩张症（AT）是一种由ATM基因突变失活引起的多系统疾病。我们报告了一项对15例患者肺部疾病的回顾性研究。
如果患者符合以下标准，则诊断为AT：具有神经学特征且至少具备以下一项：眼皮肤毛细血管扩张、血清甲胎蛋白水平升高。
11例患者通常在生命的头2年出现反复的鼻窦肺部感染。其他观察到的肺部损伤包括支气管扩张、气道阻塞和受限、纤维化、气胸和咯血。11名儿童存在免疫缺陷。
反复的鼻窦肺部表现先于神经并发症出现，但神经退行性变的严重程度与肺部疾病并无关联。肺部状况是一个预后因素。免疫缺陷是AT患者肺部疾病的主要病因，但并非唯一病因。
ATM在肺部和呼吸道上皮中的作用几乎没有争议。为降低与AT相关的发病率，需要提高对呼吸并发症的认识。早期管理和监测肺功能对于将肺损伤降至最低是必要的。
