Interstitial lung disease in a child heterozygous for the 1549C→GAA (121ins2) mutation of surfactant protein B

European Respiratory Journal

Volumn 38, Issue 4, 2011, Pages 985-987

  Rossi, F P ^a   Salerno, T ^a   Peca, D ^a   Danhaive, O ^a   Boldrini, R ^a   Menchini, L ^a   Cutrera, R ^a  

^a BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

FLUTICASONE; IPRATROPIUM BROMIDE; LUNG SURFACTANT; MONTELUKAST; SALBUTAMOL; STEROID; SURFACTANT PROTEIN B;

ACUTE RESPIRATORY FAILURE; ARTIFICIAL VENTILATION; CASE REPORT; COMPUTER ASSISTED TOMOGRAPHY; GENE; GENE INSERTION; HETEROZYGOTE; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; INFANT; INTERSTITIAL LUNG DISEASE; INTERSTITIAL PNEUMONIA; LETTER; LUNG BIOPSY; LUNG INFILTRATE; MALE; PNEUMONIA; PRIORITY JOURNAL; RESPIRATORY DISTRESS SYNDROME; SFTPB GENE;

HETEROZYGOTE; HUMANS; INFANT; LUNG DISEASES, INTERSTITIAL; MALE; POINT MUTATION; PULMONARY SURFACTANT-ASSOCIATED PROTEIN B;

EID: 80053495012     PISSN: 09031936     EISSN: 13993003     Source Type: Journal    
DOI: 10.1183/09031936.00155310     Document Type: Letter

References (5)

1. Nogee LM, DeMello DE, Dehner LP, et al. Deficiency of pulmonary surfactant protein-B in congenital alveolar proteinosis. N Engl J Med 1993; 328: 406-410. (Pubitemid 23042289)
2. DeMello DE, Heyman S, Phelps DS, et al. Ultrastructure of lung in surfactant protein-B deficiency. Am J Respir Cell Mol Biol 1994; 11: 230-239.
3. Nogee LM, Wert SE, Proffit SA, et al. Allelic heterogeneity in hereditary surfactant protein B (SP-B) deficiency. Am J Respir Crit Care Med 2000; 161: 973-981. (Pubitemid 30171760)
4. Tredano M, van Elburg RM, Kaspers AG, et al. Compound SFTPB 1549C→GAA (121ins2) and 457delC heterozygosity in severe congenital lung disease and surfactant protein B (SP-B) deficiency. Hum Mutat 1999; 14: 502-509.
5. Yusen R, Cohen AH, Hamvas A. Normal lung function in subjects heterozygous for surfactant protein B deficiency. Am J Respir Crit Care Med 1999; 159: 411-414. (Pubitemid 29084859)