Pulmonary Function in Children and Young Adults With Ataxia Telangiectasia

BackgroundPulmonary 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. MethodsChildren and adults ranging from 6 to 29 years of age and with the diagnosis of A-T were recruited, and underwent pulmonary function tests. ResultsThe mean forced vital capacity % predicted (FVC %) in the population was 56.620.0. 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. ConclusionIn 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. Pediatr Pulmonol. 2014; 49:84-990. (c) 2013 Wiley Periodicals, Inc.