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Evaluation and management of pulmonary disease in ataxia‐telangiectasia
Author(s) -
McGrathMorrow Sharon A.,
Gower W. Adam,
RothblumOviatt Cynthia,
Brody Alan S.,
Langston Claire,
Fan Leland L.,
LeftonGreif Maureen A.,
Crawford Thomas O.,
Troche Michelle,
Sandlund John T.,
Auwaerter Paul G.,
Easley Blaine,
Loughlin Gerald M.,
Carroll John L.,
Lederman Howard M.
Publication year - 2010
Publication title -
pediatric pulmonology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.866
H-Index - 106
eISSN - 1099-0496
pISSN - 8755-6863
DOI - 10.1002/ppul.21277
Subject(s) - medicine , bronchiectasis , ataxia telangiectasia , disease , population , lung , ataxia , respiratory disease , pathology , immunology , genetics , dna , environmental health , psychiatry , biology , dna damage
Ataxia‐telangiectasia (A‐T) is a rare autosomal recessive disorder caused by mutations in the ATM gene, resulting in faulty repair of breakages in double‐stranded DNA. The clinical phenotype is complex and is characterized by neurologic abnormalities, immunodeficiencies, susceptibility to malignancies, recurrent sinopulmonary infections, and cutaneous abnormalities. Lung disease is common in patients with A‐T and often progresses with age and neurological decline. Diseases of the respiratory system cause significant morbidity and are a frequent cause of death in the A‐T population. Lung disease in this population is thought to exhibit features of one or more of the following phenotypes: recurrent sinopulmonary infections with bronchiectasis, interstitial lung disease, and lung disease associated with neurological abnormalities. Here, we review available evidence and present expert opinion on the diagnosis, evaluation, and management of lung disease in A‐T, as discussed in a recent multidisciplinary workshop. Although more data are emerging on this unique population, many recommendations are made based on similarities to other more well‐studied diseases. Gaps in current knowledge and areas for future research in the field of pulmonary disease in A‐T are also outlined. Pediatr. Pulmonol. 2010; 45:847–859. © 2010 Wiley‐Liss, Inc.