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Non Invasive Assessment of Lung Disease in Ataxia Telangiectasia by High-Field Magnetic Resonance Imaging

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Abstract

Purpose

A sensitive imaging technique that assesses ataxia telangiectasia (AT) lung disease without ionizing radiation is highly desirable. We designed a study to evaluate lung changes using magnetic resonance imaging (MRI), and to investigate the relationships among severity and extent of pulmonary abnormalities and clinical, microbiological and functional data in children and young adults with AT.

Methods

Fifteen AT patients (age, 11.3 years; range, 6–31) underwent 3.0-T MRI, spirometry, and deep throat or sputum culture. Images were scored using a modified Helbich score.

Results

Although only 8 patients (53 %) had recurrent/chronic respiratory symptoms, MRI identified lung abnormalities in all. Bronchiectasis, peribronchial thickening, mucous plugging, and collapse/consolidation were present in 60 %, 87 %, 67 %, and 13 % of cases, respectively, with no difference between subjects with or without respiratory symptoms. No difference in changes of specific scores was found between the two groups, but the total MRI score was higher in patients with respiratory symptoms (6.5 versus 5, respectively; p = 0.02). Total or specific MRI scores were not associated with patients’ age. Of all scores, only mucous plugging subscore appeared significantly related to FEV1 (r = 0.7, p = 0.04) and FEF25–75% (r = 0.9, p = 0.001). MRI scores from patients with positive (n = 5) or negative (n = 10) sputum culture were not significantly different.

Conclusions

MRI is valuable in the assessment of extent and severity of pulmonary changes in children and adults with AT. It represents an helpful tool for the longitudinal evaluation of patients and may be also used as an outcome surrogate to track the effects of medications.

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Conflict of Interest

The authors declare that they have no conflict of interest.

Author information

Authors and Affiliations

  1. Department of Translational Medical Sciences, “Federico II” University, Via Pansini 5, 80131, Naples, Italy

    Silvia Montella, Giusy Ranucci, Marco Maglione, Giuliana Giardino, Francesca Santamaria & Claudio Pignata

  2. Biostructure and Bioimaging Institute, National Research Council, Naples, Italy

    Carmine Mollica

  3. Department of Pediatrics, Bambino Gesù Children Hospital, University of Rome “Tor Vergata”, Rome, Italy

    Andrea Finocchi

  4. Department of Pediatrics, Sant’Orsola-Malpighi Hospital, University of Bologna, Bologna, Italy

    Andrea Pession

  5. IRCSS Foundation Ca’ Granda, University of Milan, Milan, Italy

    Maria Cristina Pietrogrande

  6. Unit of Pediatric Hematology and Oncology, “G. Di Cristina” Children’s Hospital, A.R.N.A.S., Palermo, Italy

    Antonino Trizzino

  7. Department of Advanced Biomedical Sciences, “Federico II” University, Naples, Italy

    Marco Salvatore

Authors
  1. Silvia Montella
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  2. Carmine Mollica
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  3. Andrea Finocchi
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  4. Andrea Pession
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  8. Marco Maglione
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  9. Giuliana Giardino
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  10. Marco Salvatore
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  11. Francesca Santamaria
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Corresponding author

Correspondence to Francesca Santamaria.

Additional information

Francesca Santamaria and Claudio Pignata equally contributed to the study.

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Montella, S., Mollica, C., Finocchi, A. et al. Non Invasive Assessment of Lung Disease in Ataxia Telangiectasia by High-Field Magnetic Resonance Imaging. J Clin Immunol 33, 1185–1191 (2013). https://doi.org/10.1007/s10875-013-9933-y

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  • DOI: https://doi.org/10.1007/s10875-013-9933-y

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