Combined pulmonary fibrosis and emphysema syndrome associated with familial SFTPC mutation

Thorax

Volumn 66, Issue 10, 2011, Pages 918-919

  Cottin, Vincent ^a,b   Reix, Philippe ^c   Khouatra, Chahéra ^a   Thivolet Béjui, Françoise ^c   Feldmann, Delphine ^d   Cordier, Jean François ^a,b  

^a LOUIS PRADEL HOSPITAL   (France)

^b UNIVERSITÉ LYON 1   (France)

^c HOSPICES CIVILS DE LYON   (France)

^d ARMAND TROUSSEAU HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CORTICOSTEROID; OXYGEN; PREDNISONE; SURFACTANT PROTEIN C;

ADULT; CASE REPORT; CESAREAN SECTION; COMBINED PULMONARY FIBROSIS AND EMPHYSEMA SYNDROME; COUGHING; DISEASE EXACERBATION; DYSPNEA; ECHOCARDIOGRAPHY; FEMALE; GENE; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC PREDISPOSITION; HETEROZYGOTE; HIGH RESOLUTION COMPUTER TOMOGRAPHY; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; INFORMED CONSENT; INTERSTITIAL LUNG DISEASE; LETTER; LUNG BIOPSY; LUNG EMPHYSEMA; LUNG FIBROSIS; LUNG FUNCTION TEST; LUNG INFILTRATE; LUNG LAVAGE; MOLECULAR PATHOLOGY; OXYGEN THERAPY; PRIORITY JOURNAL; SFTPC GENE; TREATMENT DURATION;

EID: 80053250869     PISSN: 00406376     EISSN: 14683296     Source Type: Journal    
DOI: 10.1136/thx.2010.151407     Document Type: Letter

References (5)

1. Nogee LM, Dunbar AE 3rd, Wert SE, et al. A mutation in the surfactant protein C gene associated with familial interstitial lung disease. NEngl J Med 2001;344:573-9. (Pubitemid 32167871)
2. Guillot L, Epaud R, Thouvenin G, et al. New surfactant protein C gene mutations associated with diffuse lung disease. J Med Genet 2009;46:490-4.
3. van Moorsel CH, van Oosterhout MF, Barlo NP, et al. SFTPC Mutations are the basis of a significant portion of adult familial pulmonary fibrosis in a Dutch cohort. Am J Respir Crit Care Med 2010;182:1419-25.
4. Mechri M, Epaud R, Emond S, et al. Surfactant protein C gene (SFTPC) mutation-associated lung disease: high-resolution computed tomography (HRCT) findings and its relation to histological analysis. Pediatr Pulmonol 2010;45:1021-9.
5. Cottin V, Nunes H, Mouthon L, et al. Combined pulmonary fibrosis and emphysema syndrome in connective tissue disease. Arthritis Rheum 2010;63:295-304.