Neonatal respiratory failure associated with mutation in the surfactant protein C gene

Journal of Perinatology

Volumn 26, Issue 1, 2006, Pages 67-70

  Soraisham, Amuchou S ^a   Tierney, A J ^a   Amin, H J ^a  

^a UNIVERSITY OF CALGARY   (Canada)

Author keywords

Neonate; Respiratory distress; Surfacant protien C

Indexed keywords

ACICLOVIR; ANTIBIOTIC AGENT; DEXAMETHASONE; LUNG SURFACTANT EXTRACT; SURFACTANT PROTEIN C; VANCOMYCIN;

ARTICLE; CASE REPORT; DISEASE COURSE; DISEASE SEVERITY; GENE MUTATION; HUMAN; LABORATORY TEST; LUNG DISEASE; MALE; NEWBORN; PHYSICAL EXAMINATION; RESPIRATORY FAILURE;

FATAL OUTCOME; HUMANS; INFANT, NEWBORN; MALE; MUTATION; PULMONARY SURFACTANT-ASSOCIATED PROTEIN C; PULMONARY SURFACTANTS; RESPIRATION, ARTIFICIAL; RESPIRATORY DISTRESS SYNDROME, NEWBORN;

EID: 31344434497     PISSN: 07438346     EISSN: 14765543     Source Type: Journal    
DOI: 10.1038/sj.jp.7211417     Document Type: Article

References (13)

1. Whitsett JA, Weaver TE. Hydrophobic surfactant proteins in lung function and disease. N Engl J Med 2002; 347: 2141-2148.
2. Amin RS, Wert SE, Baughman RP, Tomashefski Jr JF, Nogee LM, Brody AS et al. Surfactant protein deficiency in familial interstitial lung disease. J Pediatr 2001; 139: 85-92.
3. Nogee LM, Dunbar AE, Wert SE, Askin F, Hamvas A, Whitsett JA. A mutation in the surfactant protein C gene associated with familial interstial lung disease. N Engl J Med 2001; 344: 573-579
4. Hamvas A, Nogee LM, White FV, Schuler P, Hackett BP, Huddleston CB et al. Progressive lung disease and surfactant dysfunction with a deletion in surfactant protein C gene. Am J Respir Cell Mol Biol 2004; 30: 771-776.
5. Thomas AQ, Lane K, Philips III J, Prince M, Markin C, Speer M et al. Heterozygosity for a surfactant protein C gene mutation associated with usual interstitial pneumonitis and cellular non-specific interstitial pneumonitis in one kindred. Am J Respir Crit Care Med 2002; 165: 1322-1328.
6. Nogee LM, Wert SE, Proffit SA, Hull WM, Whitsett JA. Allelic heterogeneity in hereditary surfactant protein B (SP-B) deficiency. Am J Respir Crit Care Med 2000; 161: 973-981.
7. Brasch F, Griese M, Tredano M, Johnen G, Ochs M, Rieger C et al. Interstitial lung disease in a baby with a de novo mutation in the SFTPC gene. Eur Respir J 2004; 24: 30-39.
8. Kabore AF, Wang WJ, Russo SJ, Beers MF. Biosynthesis of surfactant protein C: Characterization of aggresome formation by EGFP chimeras containing propeptide mutants lacking conserved cysteine residues. J Cell Sci 2001; 114: 293-302.
9. Conkright JJ, Na CL, Weaver TE. Over expression of surfactant protein-C mature peptide causes neonatal lethality in transgenic mice. Am J Respir Cell Mol Biol 2002; 26: 85-90.
10. Perlmutter DH. The cellular response to aggregated proteins associated with human disease. J Clin Invest 2002; 110: 1219-1220.
11. Cameron HS, Somaschini M, Carrera P, Hamvas A, Whitsett JA, Wert SE et al. A common mutation in the surfactant protein C gene associated with lung disease. J Pediatr 2005; 146: 370-375.
12. Moreno A, Maestre J, Balcells J, Marhuenda C, Cobos N, Roman A et al. Lung transplantation in young infants with interstitial pneumonia. Transplant Proc 2003; 35: 1951-1953.
13. Rosen DM, Waltz DA. Hydroxychloroquine and surfactant protein C deficiency. N Engl J Med 2005; 352: 207-208.