Lung disease in ataxia-telangiectasia

• Published in: Acta Paediatrica Vol. 96; no. 7; pp. 1021 - 1024
• Main Authors: Bott, L, Lebreton, JP, Thumerelle, C, Cuvellier, JC, Deschildre, A, Sardet, A
• Format: Journal Article
• Language: English
• Published: Oxford, UK Blackwell Publishing Ltd 01-07-2007; Blackwell
• Subjects: Adolescent; Airway Obstruction; Ataxia Telangiectasia - complications; Ataxia Telangiectasia - immunology; Ataxia-telangiectasia; ATM gene; Biological and medical sciences; Bronchiectasis; Chromosome fragility (bloom syndrome, ataxia telangiectasia, fanconi anemia, x-linked mental retardation...); DNA repair; Female; General aspects; Humans; Immune deficiency; Immunodeficiencies; Immunodeficiencies. Immunoglobulinopathies; Immunopathology; Infection; Lung disease; Lung Diseases - etiology; Lung Diseases - immunology; Male; Medical genetics; Medical sciences; Respiratory Tract Infections - etiology; Retrospective Studies; Immunopathology; Lung disease; Pediatrics; Skin disease; Nervous system diseases; Respiratory disease; Cardiovascular disease; Bronchiectasis; ATM gene; Immune deficiency; DNA repair; Genetic disease; Vascular disease; Infection; Eye disease; Ataxia-telangiectasia; DNA; Bronchus disease; Ataxia telangiectasia
• ISSN: 0803-5253; 1651-2227
• DOI: 10.1111/j.1651-2227.2007.00338.x

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.
Patients and methods: 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 α‐feto‐protein level.
Results: 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.
Discussion: 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.
Conclusion: 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.