Similarities and differences of interstitial lung disease associated with pathogenic variants in SFTPC and ABCA3 in adults

Rémi Diesler¹, Marie Legendre^{2

3}, Salim Si-Mohamed⁴, Pierre-Yves Brillet⁵, Lidwine Wemeau⁶, Effrosyni D Manali⁷, Frédéric Gagnadoux⁸, Sandrine Hirschi⁹, Gwenaël Lorillon¹⁰, Martine Reynaud-Gaubert¹¹, Vanessa Bironneau¹², Elodie Blanchard¹³, Arnaud Bourdin¹⁴, Stéphane Dominique¹⁵, Aurélien Justet¹⁶, Julie Macey¹⁷, Sylvain Marchand-Adam¹⁸, Hélène Morisse-Pradier¹⁵, Hilario Nunes¹⁹, Spyros A Papiris⁷, Julie Traclet²⁰, Ibrahim Traore²¹, Bruno Crestani²², Serge Amselem^{2

3}, Nadia Nathan^{3

23}, Raphaël Borie²⁴, Vincent Cottin¹; OrphaLung network

Collaborators, Affiliations

Affiliations

¹ Department of Respiratory Medicine, National Reference Centre for Rare Pulmonary Diseases, Hospices civils de Lyon, Université Lyon 1, UMR754, INRAE, ERN-LUNG, Lyon, France.
² U.F. de Génétique moléculaire, Assistance Publique-Hôpitaux de Paris, Sorbonne Université, Hôpital Armand Trousseau, Paris, France.
³ Childhood Genetic Diseases, UMR_S933, Inserm, Assistance Publique-Hôpitaux de Paris, Sorbonne Université, Hôpital Armand Trousseau, Paris, France.
⁴ Department of Thoracic Imaging, Louis Pradel Hospital, Hospices Civils de Lyon, Claude Bernard University Lyon 1, INSA-Lyon, UJM-Saint-Étienne, CNRS, Inserm, CREATIS UMR 5220, Lyon, France.
⁵ Service de Radiologie, Assistance Publique-Hôpitaux de Paris, Hôpital Avicenne, Bobigny, France.
⁶ CHU Lille, Service de Pneumologie et Immuno-Allergologie, Centre de Référence Constitutif des Maladies Pulmonaires Rares, Hôpital Calmette, Lille, France.
⁷ 2nd Pulmonary Medicine Department, General University Hospital "Attikon," Medical School, National and Kapodistrian University of Athens, Athens, Greece.
⁸ Service de Pneumologie et Allergologie, Centre Hospitalier Universitaire d'Angers, Angers, France.
⁹ Service de Pneumologie, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
¹⁰ National Reference Centre for Histiocytoses, Pulmonary Department, Assistance Publique-Hôpitaux de Paris, Hôpital Saint-Louis, Paris, France.
¹¹ Service de Pneumologie, Équipe de Transplantation Pulmonaire, Centre de Compétence des Maladies Pulmonaires Rares, Aix-Marseille Université, Assistance Publique-Hôpitaux de Marseille, CHU Nord, Marseille, France.
¹² Service de Pneumologie CHU de Poitiers, INSERM CIC 1402, IS-ALIVE Research Group, Université de Poitiers, UFR Médecine et Pharmacie, Poitiers, France.
¹³ Service de Pneumologie, Hôpital Haut Lévêque, CHU de Bordeaux, Bordeaux, France.
¹⁴ Department of Respiratory Diseases and PhyMedExp, Centre National de la Recherche Scientifique, INSERM, University of Montpellier, CHU Montpellier, Montpellier, France.
¹⁵ Department of Pneumology, CHU Rouen, Rouen, France.
¹⁶ Service de Pneumologie, CHU de Caen, Centre de compétence des maladies pulmonaires rares, ISTCT, UMR6030-CNRS-CEA-Université de Caen, Caen, France.
¹⁷ Respiratory Medicine and Cystic Fibrosis Center, University Hospital Center of Bordeaux, Bordeaux, France.
¹⁸ Service de Pneumologie et Explorations Fonctionnelles Respiratoires, CHU Tours, Université François Rabelais, Tours, France.
¹⁹ Service de Pneumologie et Oncologie Thoracique, Centre Constitutif Maladies Pulmonaires Rares de l'Adulte, Assistance Publique-Hôpitaux de Paris, Hôpital Avicenne, Paris, France.
²⁰ Department of Respiratory Medicine, National Reference Centre for Rare Pulmonary Diseases, Hospices civils de Lyon, Université Lyon 1, Lyon, France.
²¹ Service de Pneumologie, CHU Jean Minjoz, Besançon, France.
²² Service de Pneumologie, Assistance Publique-Hôpitaux de Paris, Hôpital Bichat, Paris, France.
²³ Pediatric Pulmonology Department and Reference Center for Rare Lung Diseases and Laboratory of Childhood Genetic Diseases Inserm UMR_S933, Assistance Publique-Hôpitaux de Paris, Sorbonne University, Armand Trousseau Hospital, Paris, France.
²⁴ Université Paris Cité, INSERM U1152, Laboratoire D'Excellence Inflamex, Assistance Publique-Hôpitaux de Paris, Service de Pneumologie A, Centre de Référence Constitutif des Maladies Pulmonaires Rares, Fédération Hospitalo-Universitaire Apollo, Hôpital Bichat, Paris, France.

PMID: 38345107
DOI: 10.1111/resp.14667

Free article

Similarities and differences of interstitial lung disease associated with pathogenic variants in SFTPC and ABCA3 in adults

Rémi Diesler et al. Respirology. 2024 Apr.

Free article

. 2024 Apr;29(4):312-323.

doi: 10.1111/resp.14667. Epub 2024 Feb 12.

Authors

Affiliations

¹ Department of Respiratory Medicine, National Reference Centre for Rare Pulmonary Diseases, Hospices civils de Lyon, Université Lyon 1, UMR754, INRAE, ERN-LUNG, Lyon, France.
² U.F. de Génétique moléculaire, Assistance Publique-Hôpitaux de Paris, Sorbonne Université, Hôpital Armand Trousseau, Paris, France.
³ Childhood Genetic Diseases, UMR_S933, Inserm, Assistance Publique-Hôpitaux de Paris, Sorbonne Université, Hôpital Armand Trousseau, Paris, France.
⁴ Department of Thoracic Imaging, Louis Pradel Hospital, Hospices Civils de Lyon, Claude Bernard University Lyon 1, INSA-Lyon, UJM-Saint-Étienne, CNRS, Inserm, CREATIS UMR 5220, Lyon, France.
⁵ Service de Radiologie, Assistance Publique-Hôpitaux de Paris, Hôpital Avicenne, Bobigny, France.
⁶ CHU Lille, Service de Pneumologie et Immuno-Allergologie, Centre de Référence Constitutif des Maladies Pulmonaires Rares, Hôpital Calmette, Lille, France.
⁷ 2nd Pulmonary Medicine Department, General University Hospital "Attikon," Medical School, National and Kapodistrian University of Athens, Athens, Greece.
⁸ Service de Pneumologie et Allergologie, Centre Hospitalier Universitaire d'Angers, Angers, France.
⁹ Service de Pneumologie, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
¹⁰ National Reference Centre for Histiocytoses, Pulmonary Department, Assistance Publique-Hôpitaux de Paris, Hôpital Saint-Louis, Paris, France.
¹¹ Service de Pneumologie, Équipe de Transplantation Pulmonaire, Centre de Compétence des Maladies Pulmonaires Rares, Aix-Marseille Université, Assistance Publique-Hôpitaux de Marseille, CHU Nord, Marseille, France.
¹² Service de Pneumologie CHU de Poitiers, INSERM CIC 1402, IS-ALIVE Research Group, Université de Poitiers, UFR Médecine et Pharmacie, Poitiers, France.
¹³ Service de Pneumologie, Hôpital Haut Lévêque, CHU de Bordeaux, Bordeaux, France.
¹⁴ Department of Respiratory Diseases and PhyMedExp, Centre National de la Recherche Scientifique, INSERM, University of Montpellier, CHU Montpellier, Montpellier, France.
¹⁵ Department of Pneumology, CHU Rouen, Rouen, France.
¹⁶ Service de Pneumologie, CHU de Caen, Centre de compétence des maladies pulmonaires rares, ISTCT, UMR6030-CNRS-CEA-Université de Caen, Caen, France.
¹⁷ Respiratory Medicine and Cystic Fibrosis Center, University Hospital Center of Bordeaux, Bordeaux, France.
¹⁸ Service de Pneumologie et Explorations Fonctionnelles Respiratoires, CHU Tours, Université François Rabelais, Tours, France.
¹⁹ Service de Pneumologie et Oncologie Thoracique, Centre Constitutif Maladies Pulmonaires Rares de l'Adulte, Assistance Publique-Hôpitaux de Paris, Hôpital Avicenne, Paris, France.
²⁰ Department of Respiratory Medicine, National Reference Centre for Rare Pulmonary Diseases, Hospices civils de Lyon, Université Lyon 1, Lyon, France.
²¹ Service de Pneumologie, CHU Jean Minjoz, Besançon, France.
²² Service de Pneumologie, Assistance Publique-Hôpitaux de Paris, Hôpital Bichat, Paris, France.
²³ Pediatric Pulmonology Department and Reference Center for Rare Lung Diseases and Laboratory of Childhood Genetic Diseases Inserm UMR_S933, Assistance Publique-Hôpitaux de Paris, Sorbonne University, Armand Trousseau Hospital, Paris, France.
²⁴ Université Paris Cité, INSERM U1152, Laboratoire D'Excellence Inflamex, Assistance Publique-Hôpitaux de Paris, Service de Pneumologie A, Centre de Référence Constitutif des Maladies Pulmonaires Rares, Fédération Hospitalo-Universitaire Apollo, Hôpital Bichat, Paris, France.

PMID: 38345107
DOI: 10.1111/resp.14667

Abstract

Background and objective: Variants in surfactant genes SFTPC or ABCA3 are responsible for interstitial lung disease (ILD) in children and adults, with few studies in adults.

Methods: We conducted a multicentre retrospective study of all consecutive adult patients diagnosed with ILD associated with variants in SFTPC or ABCA3 in the French rare pulmonary diseases network, OrphaLung. Variants and chest computed tomography (CT) features were centrally reviewed.

Results: We included 36 patients (median age: 34 years, 20 males), 22 in the SFTPC group and 14 in the ABCA3 group. Clinical characteristics were similar between groups. Baseline median FVC was 59% ([52-72]) and DLco was 44% ([35-50]). An unclassifiable pattern of fibrosing ILD was the most frequent on chest CT, found in 85% of patients, however with a distinct phenotype with ground-glass opacities and/or cysts. Nonspecific interstitial pneumonia and usual interstitial pneumonia were the most common histological patterns in the ABCA3 group and in the SFTPC group, respectively. Annually, FVC and DL_CO declined by 1.87% and 2.43% in the SFTPC group, respectively, and by 0.72% and 0.95% in the ABCA3 group, respectively (FVC, p = 0.014 and DL_CO , p = 0.004 for comparison between groups). Median time to death or lung transplantation was 10 years in the SFTPC group and was not reached at the end of follow-up in the ABCA3 group.

Conclusion: SFTPC and ABCA3-associated ILD present with a distinct phenotype and prognosis. A radiologic pattern of fibrosing ILD with ground-glass opacities and/or cysts is frequently found in these rare conditions.

Keywords: ABCA3; SFTPC; adults; fibrosing interstitial lung disease; interstitial lung disease; surfactant.

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References

REFERENCES

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Similarities and differences of interstitial lung disease associated with pathogenic variants in SFTPC and ABCA3 in adults

Collaborators

Affiliations

Similarities and differences of interstitial lung disease associated with pathogenic variants in SFTPC and ABCA3 in adults

Authors

Collaborators

Affiliations

Abstract

References

REFERENCES

MeSH terms

Substances

LinkOut - more resources

Full Text Sources

Medical

Molecular Biology Databases