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Combined pulmonary fibrosis and emphysema syndrome associated with ABCA3 mutations

Ralph Epaud, Céline Delestrain, Malek Louha, Stéphanie Simon, Pascale Fanen, Abdellatif Tazi
European Respiratory Journal 2014 43: 638-641; DOI: 10.1183/09031936.00145213
Ralph Epaud
1Inserm, U955, Equipe 11, Créteil
2Université Paris-Est, UMR_S955, UPEC, Créteil
3Centre Hospitalier Intercommunal de Créteil, Service de Pédiatrie, Créteil
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  • For correspondence: ralph.epaud@chicreteil.fr
Céline Delestrain
1Inserm, U955, Equipe 11, Créteil
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Malek Louha
4AP-HP, Hôpital Armand Trousseau, Service de Biochimie-Génétique Moléculaire, Paris
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Stéphanie Simon
1Inserm, U955, Equipe 11, Créteil
2Université Paris-Est, UMR_S955, UPEC, Créteil
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Pascale Fanen
1Inserm, U955, Equipe 11, Créteil
2Université Paris-Est, UMR_S955, UPEC, Créteil
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Abdellatif Tazi
5Université Paris Diderot, Paris
6INSERM UMR 717, AP-HP, Service de Pneumologie, Hôpital Saint Louis, Paris, France
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To the Editor:

Herein, we present the first report of combined pulmonary fibrosis and emphysema (CPFE) in an adult patient who was compound heterozygous for mutations of the ATP-binding cassette subfamily A member 3 gene (ABCA3, MIM 601615).

A 41-year-old nonsmoking male presented with dyspnoea on mild exertion. The patient’s medical history indicated neonatal respiratory distress, gastro-oesophageal reflux and pneumonia 8 years previously that resolved with antibiotics. His physical examination revealed a mild pectus excavatum, finger clubbing and bilateral basal crackles. High-resolution computed tomography (HRCT) of the chest showed voluminous emphysema in the upper zones of the lungs associated with honeycomb fibrosis and ground-glass opacity in lower lobes, predominating in left lung (fig. 1). The bronchoalveolar lavage differential cell count was 67% macrophages, 22% neutrophils and 8% lymphocytes. Pulmonary function tests showed: total lung capacity of 75%, vital capacity (VC) of 50%, residual volume of 134%; forced expiratory volume in 1 s (FEV1) of 49%, diffusing capacity of the lung for carbon monoxide of 38% predicted, FEV1/VC of 74%, and arterial oxygen tension at room air was 96 mmHg. During a 6-min walk test the peripheral oxygen saturation decreased from 96% at rest to 90% after 630 m (80% of predicted value). A lung biopsy was not performed. …

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European Respiratory Journal: 43 (2)
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Combined pulmonary fibrosis and emphysema syndrome associated with ABCA3 mutations
Ralph Epaud, Céline Delestrain, Malek Louha, Stéphanie Simon, Pascale Fanen, Abdellatif Tazi
European Respiratory Journal Feb 2014, 43 (2) 638-641; DOI: 10.1183/09031936.00145213

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Combined pulmonary fibrosis and emphysema syndrome associated with ABCA3 mutations
Ralph Epaud, Céline Delestrain, Malek Louha, Stéphanie Simon, Pascale Fanen, Abdellatif Tazi
European Respiratory Journal Feb 2014, 43 (2) 638-641; DOI: 10.1183/09031936.00145213
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