Ataxia-telangiectasia (A-T) is an autosomal recessive multiorgan disease characterized by progressive neurologic deterioration in which the most common causes of death are diseases of the respiratory system and cancer. This retrospective case-series characterizes the pulmonary disease seen in 101 cancer-free A-T patients who were living with chronic respiratory symptoms or who had pulmonary disease listed as the cause of their death. All of the 101 patients developed chronic progressive pulmonary disease with intermittent acute exacerbations and irreversible radiographic changes. Seventy-nine patients had microbiologic analysis of their respiratory secretions and of the patients less than 15 years of age, 25/27 cultured Staphylococcus aureus, Hemophilus influenzae, or Streptococcus pneumoniae and 35/47 older patients cultured Pseudomonas aeruginosa. Opportunistic infections of the lungs were not observed. Thirty-two patients had histologic examination of their lungs and 21 of the specimens had both acute and chronic inflammatory changes. The results of this study describe the natural history of the suppurative lung disease in patients with A-T that often progresses to bronchiectasis and pneumonias and ultimately respiratory failure. The etiology of the progressive deterioration is unknown but the pulmonary disease of A-T described in this study shows similarities to the lung disease seen in cystic fibrosis. Treatment of the lung disease in patients with A-T may benefit from many of the same therapies that have improved the quality of life for patients with cystic fibrosis.
Keywords: ataxia-telangiectasia; bronchiectasis; immunodeficiency; pneumonia.
© 2013 Wiley Periodicals, Inc.