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Characteristics of disorders associated with genetic mutations of surfactant protein C
  1. Guillaume Thouvenin1,2,3,
  2. Rola Abou Taam4,5,
  3. Florence Flamein1,2,
  4. Loïc Guillot1,2,
  5. Muriel Le Bourgeois4,5,
  6. Philippe Reix6,
  7. Mickael Fayon7,
  8. François Counil8,
  9. Ulrika Depontbriand9,
  10. Delphine Feldmann10,
  11. Hubert Ducou-Le Pointe11,
  12. Jacques de Blic4,5,
  13. Annick Clement1,2,3,
  14. Ralph Epaud1,2,3
  1. 1INSERM UMR_S U938, Paris, France
  2. 2UPMC Université Paris 06, Paris, France
  3. 3AP-HP, Pediatric Pulmonary Department, Hôpital Armand Trousseau, Paris, France
  4. 4Université Paris Descartes, Paris, France
  5. 5AP-HP, Pediatric Pneumology—Allergology Department, Hôpital Necker Enfants Malades, Paris, France
  6. 6Pediatric Pneumology—Allergology Department, Groupement Hospitalier Est, Lyon, France
  7. 7Pediatric Department, Hopital Pellegrin—Enfants, Bordeaux, France
  8. 8Hôpital Arnaud de Villeneuve, Centre Hospitalier Universitaire de Montpellier, Montpellier, France
  9. 9Hôpital mere–enfant, Centre Hospitalier Universitaire de Nantes, Nantes, France
  10. 10AP-HP, Biochemistry Department, Hôpital Armand Trousseau, Paris, France
  11. 11AP-HP, Radiology Department, Hôpital Armand Trousseau, Paris, France
  1. Correspondence to Dr Ralph Epaud, Pediatric Pneumology Department and Inserm UMR_S U938, Hôpital d'Enfants Armand Trousseau, 26 Avenue du Dr Arnold Netter, F-75571 Paris cedex 12, France; ralph.epaud{at}


Study objectives To present diagnosis and treatment modalities of children with interstitial lung disease associated with frequent or rare surfactant protein C gene (SFTPC) mutation.

Patients Twenty-two children with chronic lung disease associated with SFTPC mutation in a heterozygous form.

Results Mutations located in the BRICHOS domain (‘BRICHOS domain’ group) were identified in six children, whereas 16 children carried mutations located outside the BRICHOS domain (‘non-BRICHOS domain’ group). The median age of onset was 3 (0–24) months. Four patients had neonatal respiratory distress, and symptom onset was associated with acute bronchiolitis in nine patients. Cough, tachypnoea and failure to thrive were initially noticed in all the children. Physical examination at presentation revealed tachypnoea (n=22), clubbing (n=1) and crackles (n=5). Low oxygen saturation (<95%) was observed in 18 patients. The predominant findings on initial high-resolution CT (HRCT) scans were basal-predominant ground-glass opacity (n=21) and cystic spaces (n=3). Bronchoalveolar lavage fluid (BALF) cell counts showed 379±56×103 cells/ml with increased neutrophil percentage (18±4%) independent of the mutation status. The median follow-up was 3.2 (1–18.3) years. Eighteen patients were treated by monthly methylprednisolone pulses associated with oral prednisolone (n=16), hydroxychloroquine (n=11) and/or azithromycin (n=4). Fifteen patients benefited from enteral nutrition.

Conclusion Initial diagnosis is based on clinical presentation, radiological features and BALF analysis, but the definitive diagnosis requires genetic analysis. Although progressive improvement was seen in most patients, the development of new therapeutic strategies with minimal side effects is needed.

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  • GT and RAT contributed equally to this work.

  • Competing interests None.

  • Patient consent Obtained.

  • Ethics approval Ethics approval was provided by the CPP Saint Antoine.

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