MRI and Biomarkers in Early Detection of Pulmonary Changes in Ataxia-Telangiectasia

BACKGROUND Respiratory diseases remain the main reason of severe complications and/or death in patients with ataxia-telangiectasia (A-T). Appropriate selection of diagnostics for these diseases is important, especially since A-T is characterized by radiosensitivity. The aim of the study was to assess whether lung magnetic resonance imaging (MRI) combined with the measurement of the acute-phase proteins: C-reactive protein (CRP) and serum amyloid A (SAA) in serum could be a useful diagnostic tool for early detection of lung lesions in patients with AT. MATERIAL AND METHODS Chest MRI was performed in 27 A-T patients - 14 males and 13 females, age range 3-32.8 years). SAA and CRP were measured in simultaneously collected serum samples by nephelometry and immunoturbidimetry, respectively. RESULTS Patients were qualified into 4 categories based on MRI findings. Group 0 consisted of 14 patients without any pulmonary changes. Group 1 consisted of 3 patients with sporadic enlarged lymph nodes. Group 2 consisted of 6 patients with single streaked changes. Group 3 consisted of 4 patients with severe bronchial and parenchymal alterations. Elevated serum SAA were correlated with pulmonary changes in group 3 (4/11) and group 2 (3/11), while CRP was elevated only in 2 patients from group 3. MRI was repeated in 11 out of 27 patients. Two patients had progression, 1 had regression, and the rest showed no changes. CONCLUSIONS Lung alterations in patients with A-T and higher radiation sensitivity can be evaluated by a radiation-free MRI technique. We found a strong correlation between concentration of SAA and progression of lung damage.