Pulmonary function in children and young adults with ataxia telangiectasia

• Published in: Pediatric pulmonology Vol. 49; no. 1; pp. 84 - 990
• Main Authors: McGrath-Morrow, Sharon A., Lederman, Howard M., Aherrera, Angela D., Lefton-Greif, Maureen A., Crawford, Thomas O., Ryan, Timothy, Wright, Jennifer, Collaco, Joseph M.
• Format: Journal Article
• Language: English
• Published: United States Blackwell Publishing Ltd 01.01.2014; Wiley Subscription Services, Inc
• Subjects: Adolescent; Adult; Age Factors; ataxia telangiectasia; Ataxia Telangiectasia - genetics; Ataxia Telangiectasia - physiopathology; Child; Chromosome Breakage; Cross-Sectional Studies; Female; gamma-Globulins - adverse effects; Humans; lung; Lung - physiopathology; Male; pulmonary function; Respiratory Function Tests; Sex Factors; Spirometry; Vital Capacity; lung; ataxia telangiectasia; pulmonary function
• ISSN: 8755-6863; 1099-0496
• DOI: 10.1002/ppul.22760

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. Pediatr Pulmonol. 2014; 49:84–990. © 2013 Wiley Periodicals, Inc.