Interstitial lung disease in patients with ataxia-telangiectasia

Pediatr Pulmonol. 2005 Jun;39(6):537-43. doi: 10.1002/ppul.20209.


Ataxia-telangiectasia (A-T) is an autosomal-recessive multiorgan disease characterized by progressive neurologic deterioration in which the most common causes of death are diseases of the respiratory system and cancers. The aim of this retrospective study was to delineate the clinical, radiographic, and pathologic manifestations of the chronic progressive interstitial lung disease seen in patients with A-T. The medical records of 97 patients with A-T and chronic lung disease were reviewed. Interstitial lung disease (ILD) was specifically diagnosed in 25 of 97 patients. None of these patients had evidence of an infectious process preceding the onset of their lung disease, and none had lasting clinical improvement after treatment with antibiotics. Although many medications were used to treat their ILD, only treatment with systemic corticosteroids early in the course of their illness was associated with clinical and radiographic improvement. Nineteen of these 25 patients with ILD died within 24 months of the onset of their ILD, and of 7 patients treated with corticosteroids, 5 are still alive. Recognition of interstitial lung disease in patients with A-T and its early treatment could reduce or eliminate pulmonary disease as a leading cause of death for these patients.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adolescent
  • Adrenal Cortex Hormones / therapeutic use
  • Adult
  • Ataxia Telangiectasia / epidemiology*
  • Bronchoalveolar Lavage / statistics & numerical data
  • Child
  • Comorbidity
  • Female
  • Humans
  • Immunoglobulins / blood
  • Lung / pathology
  • Lung Diseases, Interstitial / blood
  • Lung Diseases, Interstitial / diagnosis
  • Lung Diseases, Interstitial / drug therapy
  • Lung Diseases, Interstitial / epidemiology*
  • Male
  • Outcome and Process Assessment, Health Care
  • Radiography, Thoracic / statistics & numerical data
  • Retrospective Studies
  • Survival Analysis
  • Treatment Outcome
  • United States / epidemiology


  • Adrenal Cortex Hormones
  • Immunoglobulins