lung in ataxia-telangiectasia

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
 lung disease associated with neurological abnormalities.

References

 Evaluation and management of pulmonary disease in ataxia-telangiectasia. McGrath-Morrow SA, Gower WA, Rothblum-Oviatt C, Brody AS, Langston C, Fan LL, Lefton-Greif MA, Crawford TO, Troche M, Sandlund JT, Auwaerter PG, Easley B, Loughlin GM, Carroll JL, Lederman HM. Pediatr Pulmonol. 2010 Sep;45(9):847-59. PMID: 20583220