title: Evaluation and management of pulmonary disease in ataxia-telangiectasia.
abstract: 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.
authors.affiliation: Division of Pediatric Pulmonary, Department of Pediatrics, The Johns Hopkins Medical Institutions, Baltimore, Maryland 21287-2533, USA. smcgrath@jhmi.edu
authors.forename: Sharon A
authors.initials: SA
authors.lastname: McGrath-Morrow
authors.forename: W Adam
authors.initials: WA
authors.lastname: Gower
authors.forename: Cynthia
authors.initials: C
authors.lastname: Rothblum-Oviatt
authors.forename: Alan S
authors.initials: AS
authors.lastname: Brody
authors.forename: Claire
authors.initials: C
authors.lastname: Langston
authors.forename: Leland L
authors.initials: LL
authors.lastname: Fan
authors.forename: Maureen A
authors.initials: MA
authors.lastname: Lefton-Greif
authors.forename: Thomas O
authors.initials: TO
authors.lastname: Crawford
authors.forename: Michelle
authors.initials: M
authors.lastname: Troche
authors.forename: John T
authors.initials: JT
authors.lastname: Sandlund
authors.forename: Paul G
authors.initials: PG
authors.lastname: Auwaerter
authors.forename: Blaine
authors.initials: B
authors.lastname: Easley
authors.forename: Gerald M
authors.initials: GM
authors.lastname: Loughlin
authors.forename: John L
authors.initials: JL
authors.lastname: Carroll
authors.forename: Howard M
authors.initials: HM
authors.lastname: Lederman
mesh_terms: D001260:Ataxia Telangiectasia / Q000150:complications / Q000503:physiopathology*; D001987:Bronchiectasis / Q000209:etiology / Q000503:physiopathology*; D003680:Deglutition Disorders; D006801:Humans; D017563:Lung Diseases, Interstitial / Q000209:etiology / Q000503:physiopathology*; D012129:Respiratory Function Tests