Reversible airway obstruction in children with ataxia telangiectasia

Pediatr Pulmonol. 2010 Mar;45(3):230-5. doi: 10.1002/ppul.21095.


Introduction: Lung disease is a significant cause of the short life span of ataxia telangiectasia (A-T) patients. Objective lung function measurements are difficult to achieve in A-T.

Aim: To assess lung function by spirometry in relation to the clinical characteristics of A-T patients followed up at the Israeli Ataxia Telangiectasia National Clinic.

Patients and methods: Medical and spirometry data were collected from 27 A-T patients during 2004-2007. Laboratory, nutritional condition, mode of treatment, pulmonary status, and malignancies were assessed. The spirometry values FVC, FEV(1), FEV(0.5), FEF(25-75), PEF and time rise to peak flow were analyzed individually and values were compared to those of healthy age-matched children.

Results: Eleven patients (40.7%) were found to suffer from asthma according to clinical symptoms and response to bronchodilators. We found significant reduction in FEV(1) and FEV(0.5) (z-scores: -0.84 + or - 0.7 SD, -0.7 + or - 0.6 SD; P = 0.0014 and P = 0.003, respectively), in relation to healthy predicted values. FEF(25-75) was significantly lower than that in healthy children in 5 of 11 asthmatic patients. All 27 patients showed higher than healthy FEV(1)/FVC and FEV(0.5)/FVC ratios (z-scores 0.68 + or - 0.99 SD, P < 0.0015, and 2.12 + or - 1.50 SD, P < 0.0015, respectively). The rise time to peak flow was three-fold longer than that of healthy children.

Conclusion: Obstructive lung disease is common among A-T patients. Maximal peak flow reduction and prolonged rise time to peak flow may be the first signs of pulmonary involvement in these patients. Early treatment with anti-asthma therapy, bronchodilators, and steroids, may prevent further pulmonary deterioration and improve the prognosis of A-T patients.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Administration, Inhalation
  • Adolescent
  • Anti-Asthmatic Agents / administration & dosage
  • Asthma / complications
  • Asthma / drug therapy
  • Ataxia Telangiectasia / complications*
  • Bronchodilator Agents / administration & dosage*
  • Child
  • Child, Preschool
  • Female
  • Forced Expiratory Volume
  • Humans
  • Male
  • Pulmonary Disease, Chronic Obstructive / drug therapy*
  • Pulmonary Disease, Chronic Obstructive / etiology*
  • Pulmonary Disease, Chronic Obstructive / physiopathology
  • Spirometry
  • Vital Capacity
  • Young Adult


  • Anti-Asthmatic Agents
  • Bronchodilator Agents