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Fanconi syndrome-associated interstitial lung disease
  1. Ourania Papaioannou1,
  2. Theodoros Karampitsakos1,
  3. Fotios Sampsonas2 and
  4. Argyrios Tzouvelekis3
  1. 1Department of Respiratory Medicine, University General Hospital of Patras, Patras, Periféria Dhitikís Elládh, Greece
  2. 2Respiratory, University General Hospital of Patras, Patra, Greece
  3. 3Department of Respiratory Medicine, University General Hospital of Patras, Patras, Greece
  1. Correspondence to Professor Argyrios Tzouvelekis; atzouvelekis{at}


A middle-aged man was referred to our respiratory department with dyspnoea progressively deteriorating and non-productive cough over the past 8 months. High-resolution CT revealed multiple bilateral consolidations, traction bronchiectasis, reticular pattern and honeycombing with basal and peripheral predominance. Serology tests were negative. Pulmonary function tests showed moderate restrictive functional impairment and severe reduction in diffusing capacity for carbon monoxide. Meticulous evaluation of patient’s medical history revealed recent administration of oral corticosteroid due to pulmonary fibrosis potentially in the context of Fanconi syndrome diagnosed at childhood. The working diagnosis of interstitial lung disease (ILD) as a rare complication of Fanconi syndrome was proposed following multidisciplinary discussion. Despite combination treatment with low doses of corticosteroids and antifibrotic compound, the patient exhibited clinical, radiological and functional deterioration, was admitted to intensive care unit due to respiratory failure following infection-driven progression of fibrotic ILD and finally died.

  • Fluid electrolyte and acid-base disturbances
  • Interstitial lung disease
  • Lung function

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  • Contributors OP, TK, FS and AT contributed substantially to the conception and design of the work. OP and TK organised and entered data. OP, TK and AT wrote the main draft of the manuscript. OP, TK, FS and AT revised the case report for important intellectual content. All authors contributed to the final drafting of the manuscript.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.