Pulmonary function in children and young adults with ataxia telangiectasia

Pediatr Pulmonol. 2014 Jan;49(1):84-90. doi: 10.1002/ppul.22760. Epub 2013 Feb 8.


Background: Pulmonary disease contributes to significant morbidity and mortality in people with ataxia telangiectasia (A-T). To determine the association between age and lung function in children and young adults with A-T and to identify factors associated with decreased lung function, pulmonary function tests were performed in 100 consecutive people with A-T.

Methods: Children and adults ranging from 6 to 29 years of age and with the diagnosis of A-T were recruited, and underwent pulmonary function tests.

Results: The mean forced vital capacity % predicted (FVC %) in the population was 56.6 ± 20.0. Males and females between 6 and 10 years of age had similar pulmonary function. Older females were found to have significantly lower FVCs % than both older males (P < 0.02) and younger females (P < 0.001). The use of supplemental gamma globulin was associated with significantly lower FVC %. A modest correlation was found between higher radiation-induced chromosomal breakage and lower FVC % in males. No significant change in FVC % was found in a subset of subjects (n = 25) who underwent pulmonary function testing on two or more occasions over an average of 2 years.

Conclusion: In children and young adults with A-T, older females and people who required supplemental gamma globulin had significantly lower lung function by cross-sectional analysis. Stable lung function is possible over a 2-year period. Recognition of groups who are at higher risk for lower pulmonary function may help direct care and improve clinical outcomes in people with A-T.

Keywords: ataxia telangiectasia; lung; pulmonary function.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Age Factors
  • Ataxia Telangiectasia / genetics
  • Ataxia Telangiectasia / physiopathology*
  • Child
  • Chromosome Breakage
  • Cross-Sectional Studies
  • Female
  • Humans
  • Lung / physiopathology*
  • Male
  • Respiratory Function Tests
  • Sex Factors
  • Spirometry
  • Vital Capacity
  • gamma-Globulins / adverse effects


  • gamma-Globulins