Surfactant protein C gene (SFTPC ) mutation-associated lung disease: High-resolution computed tomography (HRCT) findings and its relation to histological analysis

Autor: Annick Clement, Florence Flamein, M. Mechri, H. Ducou Le Pointe, R. Abou Taam, J. de Blic, Ralph Epaud, A. Tarrant, Aurore Coulomb, Sophie Emond, D. Feldmann, Francis Jaubert, Francis Brunelle
Přispěvatelé: Service de Radiologie [CHU Trousseau], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Centre de Recherche Saint-Antoine (UMRS893), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Pneumologie Allergologie [CHU Necker], CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service d'Anatomie et cytologie pathologiques [CHU Pitié-Salpêtrière] (ACP), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service de Biochimie et de Biologie Moléculaire [CHU Trousseau], CHU Trousseau [APHP], Physiologie, biologie des organismes, populations, interactions, Service de radiologie pédiatrique [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Trousseau [APHP], Centre de Recherche Saint-Antoine ( CR Saint-Antoine ), Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université Pierre et Marie Curie - Paris 6 ( UPMC ), CHU Necker - Enfants Malades [AP-HP]-Assistance publique - Hôpitaux de Paris (AP-HP), Service d'anatomie pathologique, Université Pierre et Marie Curie - Paris 6 ( UPMC ) -Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Trousseau [APHP], Service de biochimie [CHU Trousseau], Université Pierre et Marie Curie - Paris 6 ( UPMC ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)
Rok vydání: 2010
Předmět:
Zdroj: Pediatric Pulmonology
Pediatric Pulmonology, Wiley, 2010, 45 (10), pp.1021. ⟨10.1002/ppul.21289⟩
Pediatric Pulmonology, Wiley, 2010, 45 (10), pp.1021. 〈10.1002/ppul.21289〉
Pediatric Pulmonology, 2010, 45 (10), pp.1021. ⟨10.1002/ppul.21289⟩
ISSN: 8755-6863
1099-0496
DOI: 10.1002/ppul.21289
Popis: Aim of the Study Determine high-resolution tomography (HRCT) scan characteristics in children with SFTPC mutation and correlate them to histological findings. Patients and Methods This retrospective multicenter study included 15 children (7 females and 8 males) with SFTPC mutations. HRCT scans have been performed in all the children and lung biopsies in 8 children. Results From all signs assessed on initial HRCT scans, ground-glass opacities (n = 14, 93%) and lung cysts (n = 6, 40%) were predominant. Interlobular septal thickening (n = 1, 7%), air space consolidation (n = 1, 7%), paraseptal emphysema (n = 2, 13%), and pulmonary nodules (n = 1, 7%) were also found. Histological analysis revealed accumulation of macrophages in the alveolar lumen, type II pneumocyte hyperplasia, and alveolar septal thickening. Dilatation of the respiratory bronchiole and alveolar duct associated with muscular hyperplasia were also described. Interestingly, lung cysts on HRCT scans were associated with dilatation of terminal bronchioli and alveolar duct in lung biopsies. Conclusion In children with SFTPC mutations, HRCT scan finding was highly correlated to the histological findings and, as such, represent a useful tool to identify patients that may require SFTPC gene sequencing. Pediatr Pulmonol. 2010; 45:1021–1029. © 2010 Wiley-Liss, Inc.
Databáze: OpenAIRE
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