Lung disease caused by ABCA3 mutations (2024)

1. Carolin Kröner1,
2. Thomas Wittmann1,
3. Simone Reu2,
4. Veronika Teusch3,
5. Mathias Klemme4,
6. Daniela Rauch1,
7. Meike Hengst1,
8. Matthias Kappler1,
9. Nazan Cobanoglu5,
10. Tugba Sismanlar6,
11. Ayse T Aslan6,
12. Ilaria Campo7,
13. Marijke Proesmans8,
14. Thomas Schaible9,
15. Susanne Terheggen-Lagro10,
16. Nicolas Regamey11,
17. Ernst Eber12,
18. Jürgen Seidenberg13,
19. Nicolaus Schwerk14,
20. Charalampos Aslanidis15,
21. Peter Lohse16,
22. Frank Brasch17,
23. Ralf Zarbock1,
24. Matthias Griese1

1. ¹Department of Pediatric Pneumology, Dr. von Hauner Children's Hospital, LMU Munich, Munich, Germany
2. ²Department of Pathology, LMU Munich, Munich, Germany
3. ³Department of Pediatric Radiology, Dr. von Hauner Children's Hospital, LMU Munich, Munich, Germany
4. ⁴Department of Neonatology, Klinikum Großhadern, LMU Munich, Munich, Germany
5. ⁵Department of Pediatric Pneumonology, Ankara University Children's Hospital, Ankara University, Ankara, Turkey
6. ⁶Gazi University Hospital, Ankara University, Ankara, Turkey
7. ⁷Pneumology Unit, IRCCS San Matteo Hospital Foundation and University of Pavia, Pavia, Italy
8. ⁸Department of Pediatric Pneumology, University Hospital Leuven, University Leuven, Leuven, Belgium
9. ⁹Department of Neonatology, University Hospital, University Mannheim, Mannheim, Germany
10. ¹⁰Emma Children's Hospital, Academic Medical Center, Amsterdam, Netherlands
11. ¹¹Department of Pediatric Pneumology, Children's Hospital, Lucerne, Switzerland
12. ¹²Department of Pediatrics and Adolescent Medicine, Division of Pediatric Pulmonology and Allergology, Medical University of Graz, Graz, Austria
13. ¹³Department of Pediatric Pneumology and Allergology, Neonatology and Intensive Care, Klinikum Oldenburg, Medical Campus of University Oldenburg, Oldenburg, Germany
14. ¹⁴Clinic of Pediatric Pneumology, Allergology and Neonatology, Hannover Medical School, Hannover, Germany
15. ¹⁵Institute for Clinical Chemistry and Laboratory Medicine, University of Regensburg, Regensburg, Germany
16. ¹⁶Hohentwielstr. 32, 78250 Tengen, Germany
17. ¹⁷Department of Pathology, Academic Teaching Hospital Bielefeld, Bielefeld, Germany

1. Correspondence to Professor Dr Matthias Griese, Department of Pediatric Pneumology, Dr. von Hauner Children's Hospital, LMU, German Center for Lung research (DZL), Lindwurmstraße 4, Munich 80337, Germany; matthias.griese{at}med.uni-muenchen.de

• ABCA3
• Paediatric interstitial lung disease
• Surfactant protein

• ABCA3
• Paediatric interstitial lung disease
• Surfactant protein

Footnotes

• Contributors MG designed the study, collected the cases, analysed the data and drafted and revised the manuscript. He is the guarantor of the entire manuscript. CK organised and analysed the data and drafted the manuscript. MKl, MH, MKa, NC, TS, ATA, IC, MP, TS, ST-L, NR, EE, JS, NS, CA, CK and MG contributed and evaluated patients and performed chart review. RZ, DR and TW performed laboratory and immunohistochemical analyses, FB and SR performed the histological investigations, VT the radiological investigations. CA and PL performed genetic analysis and contributed to the long-term collection of subjects. All contributors read and critically revised the manuscript and agreed to the final version of the manuscript.

• Funding The work of MG was supported by the Deutsche Forschungsgemeinschaft Gr970/8-1, chILD-EU (FP7, No. 305653) and the “Else Kröner-Fresenius-Stiftung” grant 2013_A72.

• Competing interests None declared.

• Ethics approval Institutional Review Board (EK 026-06), chILD-EU (EK 111-13).

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

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  Thorax 2017; 72 i-i Published Online First: 15 Feb 2017. doi: 10.1136/thoraxjnl-2017-210059