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Epidemiology of childhood interstitial lung disease in France: the RespiRare cohort
  1. Camille Fletcher1,2,
  2. Alice Hadchouel3,4,
  3. Caroline Thumerelle5,
  4. Julie Mazenq6,7,
  5. Manon Fleury8,
  6. Harriet Corvol1,9,
  7. Nouha Jedidi1,
  8. Myriam Benhamida10,
  9. Katia Bessaci11,
  10. Tiphaine Bilhouee10,
  11. Raphael Borie12,13,
  12. Jacques Brouard14,
  13. Aurélie Cantais15,
  14. Annick Clement16,
  15. Laurianne Coutier17,
  16. Camille Cisterne5,
  17. Pierrick Cros18,
  18. Marie-Laure Dalphin19,
  19. Christophe Delacourt3,4,
  20. Eric Deneuville20,
  21. Jean-Christophe Dubus6,21,
  22. Carole Egron22,
  23. Ralph Epaud23,24,
  24. Michael Fayon25,26,
  25. Aude Forgeron27,
  26. Elsa Gachelin28,
  27. François Galode25,
  28. Isabelle Gertini29,
  29. Lisa Giovannini-Chami30,
  30. Pierre Gourdan30,
  31. Tamazoust Guiddir31,
  32. Audrey Herzog32,
  33. Véronique Houdouin33,
  34. Églantine Hullo34,
  35. Pierre-Henri Jarreau35,
  36. Guillame Labbé22,
  37. Géraldine Labouret36,
  38. Alice Ladaurade19,
  39. Laurence Le Clainche Viala33,
  40. Christophe Marguet37,
  41. Alexandra Masson-Rouchaud38,
  42. Caroline Perisson39,
  43. Cinthia Rames40,
  44. Philippe Reix17,
  45. Marie-Catherine Renoux41,
  46. Léa Roditis36,
  47. Cyril Schweitzer42,
  48. Aurélie Tatopoulos42,
  49. Pascale Trioche-Eberschweiler43,
  50. Françoise Troussier44,
  51. Clémentine Vigier20,
  52. Laurence Weiss32,
  53. Marie Legendre2,45,
  54. Camille Louvrier2,45,
  55. Alix de Becdelievre46,47,
  56. Aurore Coulomb48,
  57. Chiara Sileo49,
  58. Hubert Ducou le Pointe49,
  59. Laureline Berteloot50,
  60. Céline Delestrain23,24,
  61. Nadia Nathan1,2
  1. 1 Paediatric Pulmonology Department and Reference Center for Rare Lung Diseases, RespiRare, Sorbonne University, AP-HP, Armand Trousseau Hospital, Paris, France
  2. 2 Laboratory of Childhood Genetic Diseases, UMR_S933, Sorbonne University, INSERM, Armand Trousseau Hospital, Paris, France
  3. 3 AP-HP, Service de Pneumologie Pédiatrique and Reference center for rare lung diseases RespiRare, Necker-Enfants Malades Hospital, Paris, France
  4. 4 INSERM U1151 INEM, Université Paris Cité, INSERM, Paris, France
  5. 5 Pediatric Pulmonology Department, Lille University Hospital, Lille, France
  6. 6 Pediatric Pulmonology Department and Reference Center for Rare Lung Diseases RespiRare, Aix-Marseille University, AP-HM, Marseille, France
  7. 7 INRAE, C2VN, INSERM, Marseille, France
  8. 8 APHP, Armand Trousseau Hospital, Pediatric Pulmonology Department and Reference Center for Rare Lung Diseases RespiRare, Sorbonne University, Paris, France
  9. 9 CDR Saint-Antoine, Paris, France
  10. 10 Pediatric Department, University Hospital Centre Nantes, Nantes, France
  11. 11 Pediatric Pulmonology Department, University Hospital Centre Reims, Reims, France
  12. 12 APHP, Bichat Hospital, Pulmonology Department A, Université Paris Cité, Paris, France
  13. 13 Inserm UMR-S 1152 PHERE, INSERM, Paris, France
  14. 14 Medical Pediatric Department, Inserm UMRS 1311, DYNAMICURE, UNICAEN, University Hospital Centre Caen, Caen, France
  15. 15 Pediatric Department, Saint-Etienne University Hospital, Saint-Etienne, France
  16. 16 Plateforme d’expertise maladies rares, AP-HP.Sorbonne University, Paris, France
  17. 17 Pediatric Pulmonology Department, University Hospital Lyon, Lyon, France
  18. 18 Pediatric Department, Centre Hospitalier Universitaire de Brest, Brest, France
  19. 19 Pediatric Pulmonology Department, Centre Hospitalier Universitaire de Besancon, Besancon, France
  20. 20 Pediatric Pulmonology Department, University Hospital Centre Rennes, Rennes, France
  21. 21 IRD, MEPHI, IHU Méditerranée-Infection, Aix-Marseille Université, Marseille, France
  22. 22 University Hospital Centre Clermont-Ferrand, Clermont-Ferrand, France
  23. 23 Pédiatrie, Centre Hospitalier Intercommunal de Créteil, Creteil, France
  24. 24 FHU SENEC; University Paris Est Créteil, INSERM, IMRB, Créteil, France
  25. 25 Pediatric Pulmonology Department, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, France
  26. 26 Clinical Investigation Center (CIC 1401); Bordeaux University, Cardio-Thoracic Research Center of Bordeaux, Inserm, U1045, INSERM, Bordeaux, France
  27. 27 Pediatric Pulmonology Department, Hospital Centre Le Mans, Le Mans, France
  28. 28 Pediatric Pulmonology Department, CHU Nord Réunion, Saint-Denis, France
  29. 29 Pediatric Pulmonology Department, Tours University hospital, Tours, France
  30. 30 Pediatric Pulmonology Department, Hôpitaux Pédiatriques de Nice CHU-LENVAL, Nice, France
  31. 31 Pediatric Pulmonology Department, AP-HP – Université Paris Saclay, Hospital Bicetre, Le Kremlin-Bicetre, France
  32. 32 Pediatric Pulmonology Department, CHU de Strasbourg, Strasbourg, France
  33. 33 Pediatric Pulmonology Department, AP-HP – Paris University, Robert Debré Hospital, Paris, France
  34. 34 Pediatric Pulmonology Department, University Grenoble Alpes, CHU Grenoble Alpes, Grenoble, France
  35. 35 Néonatal intensive care unit, Cochin Hospital, Université Paris Cité, Paris, France
  36. 36 Pediatric Pulmonology Department, CHU Toulouse, Toulouse, France
  37. 37 Pediatric Pulmonology Department, CHU de Rouen, Rouen, France
  38. 38 Pediatric Pulmonology Department, CHU Limoges, Limoges, France
  39. 39 Pediatric Pulmonology Department, CHU de La Réunion Sites Sud, Saint-Pierre, Réunion
  40. 40 Pediatric Department, CHU Amiens-Picardie, Amiens, France
  41. 41 Pediatric Pulmonology Department, CHRU Montpellier, Montpellier, France
  42. 42 Pediatric Pulmonology Department, CHU de Nancy, Nancy, France
  43. 43 Pediatric Department, APHP.Paris-Saclay University, Antoine-Beclere Hospital, Clamart, France
  44. 44 Pediatric Department, CHU Angers, Angers, France
  45. 45 APHP, Armand Trousseau Hospital, Molecular Genetics Department, Sorbonne University, Paris, France
  46. 46 Molecular Genetics Department, Centre Hospitalier Universitaire Henri Mondor, Creteil, France
  47. 47 INSERM U-955, Université Paris Est Creteil, INSERM, Créteil, France
  48. 48 Pathology Department, Sorbonne University, AP-HP, Armand-Trousseau Hospital, Paris, France
  49. 49 APHP, Sorbonne University, Radiology Department, Armand-Trousseau Hospital, Paris, France
  50. 50 Pediatric Radiology Department, APHP, Université Paris Cité, Necker-Enfants Malades Hospitals, Paris, France
  1. Correspondence to Professor Nadia Nathan, APHP, Armand Trousseau Hospital, Pediatric Pulmonology department and Reference center for Rare lung disases, Sorbonne University, Paris 75012, France; nadia.nathan{at}


Introduction Interstitial lung disease in children (chILD) are rare and mostly severe lung diseases. Very few epidemiological data are available in limited series of patients. The aim of this study was to assess the prevalence and incidence of chILD in France.

Methods We performed within the RespiRare network a multicentre retrospective observational study in patients with chILD from 2000 to 2022 and a prospective evaluation of chILD’s incidence between February 2022 and 2023.

Results chILD was reported in 790 patients in 42 centres. The estimated 2022 prevalence in France was 44 /million children (95% CI 40.76 to 47.46) and the computed incidence was 4.4 /million children (95% CI 3.44 to 5.56). The median age at diagnosis was 3 months with 16.9% of familial forms. Lung biopsy and genetic analyses were performed in 23.4% and 76.9%, respectively. The most frequent chILD aetiologies in the <2 years group were surfactant metabolism disorders (16.3%) and neuroendocrine cell hyperplasia of infancy (11.8%), and in the 2–18 years group diffuse alveolar haemorrhage (12.2%), connective tissue diseases (11.4%), hypersensitivity pneumonitis (8.8%) and sarcoidosis (8.8%). The management included mainly oxygen therapy (52%), corticosteroid pulses (56%), oral corticosteroids (44%), azithromycin (27.2%), enteral nutrition (26.9%), immunosuppressants (20.3%) and hydroxychloroquine (15.9%). The 5-year survival rate was 57.3% for the patients diagnosed before 2 years and 86% between 2 and 18 years.

Conclusion This large and systematic epidemiological study confirms a higher incidence and prevalence of chILD than previously described. In order to develop international studies, efforts are still needed to optimise the case collection and to harmonise diagnostic and management practices.

  • Child
  • Clinical Epidemiology
  • Rare lung diseases
  • Paediatric Lung Disaese
  • Paediatric interstitial lung disease

Data availability statement

Data are available upon reasonable request.

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  • Contributors NN acted as guarantor. CF and NN conceived the study and wrote the manuscript. CF, MF, NJ collected the data and were in charge of the data monitoring. MB, KB, TB, RB, JB, ACantais, AClement, HC, LC, CC, PC, M-LD, CDelacourt, CDelestrain, ED, J-CD, CE, MF, AF, EG, FG, IG, LG-C, PG, TG, AHadchouel, AHerzog, VH, ÉH, P-HJ, GL, AL, LLCV, CM, AM-R, JM, CP, CR, PR, M-CR, LR, CS, AT, PT-E, FT, CT, CV, LW, RE included the patients, provided the clinical data, reviewed and approved the manuscript. ML, CL, AdB provided their expertise in genetic analyses, ACL provided her expertise in pathology analysis, CS, HDLP, LB provided their expertise in imaging. All the authors reviewed and approved 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.

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  • Competing interests None declared.

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

  • Supplemental material This content has been supplied by the author(s). It has not been vetted by BMJ Publishing Group Limited (BMJ) and may not have been peer-reviewed. Any opinions or recommendations discussed are solely those of the author(s) and are not endorsed by BMJ. BMJ disclaims all liability and responsibility arising from any reliance placed on the content. Where the content includes any translated material, BMJ does not warrant the accuracy and reliability of the translations (including but not limited to local regulations, clinical guidelines, terminology, drug names and drug dosages), and is not responsible for any error and/or omissions arising from translation and adaptation or otherwise.

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