The Journal of Pediatrics
Volume 150, Issue 6 , Pages 649-653.e1 , June 2007

Unexplained Neonatal Respiratory Distress Due to Congenital Surfactant Deficiency

  • Marco Somaschini, MD

      Affiliations

    • Division of Neonatology, Bolognini Hospital, Seriate, Italy
    • Corresponding Author InformationReprint requests: Dr Marco Somaschini, Divisione di Neonatologia e Patologia Neonatale, Ospedale Bolognini, Via Paderno 21, 24068 Seriate, Italy.
    • ,
  • Lawrence M. Nogee, MD

      Affiliations

    • Department of Pediatrics, Division of Neonatology, Johns Hopkins University School of Medicine, Baltimore, MD
    • ,
  • Isabella Sassi, MD

      Affiliations

    • Pathology Unit, San Raffaele Scientific Institute, Milan, Italy
    • ,
  • Olivier Danhaive, MD

      Affiliations

    • Division of Neonatology and Laboratory of Neonatal Biology, Bambino Gesù Children’s Hospital, Rome, Italy
    • ,
  • Silvia Presi, PhD

      Affiliations

    • Clinical Molecular Biology Laboratory, Diagnostics and Research San Raffaele-Laboraf, Milan, Italy
    • ,
  • Renata Boldrini, MD

      Affiliations

    • Electron Microscopy Unit, Division of Pathology, Bambino Gesù Children’s Hospital, Rome, Italy
    • ,
  • Cristina Montrasio, PhD

      Affiliations

    • San Raffaele Scientific Institute, Unit of Genomics for Diagnosis of Genetic Diseases, Milan, Italy
    • ,
  • Maurizio Ferrari, MD

      Affiliations

    • Clinical Molecular Biology Laboratory, Diagnostics and Research San Raffaele-Laboraf, Milan, Italy
    • San Raffaele Scientific Institute, Unit of Genomics for Diagnosis of Genetic Diseases, Milan, Italy
    • Vita e Salute University, Clinical Pathology, Milan, Italy
    • ,
  • Susan E. Wert, PhD

      Affiliations

    • Department of Pediatrics, Division of Pulmonary Biology, Cincinnati Children’s Hospital Medical Center and University of Cincinnati College of Medicine, Cincinnati, OH.
    • ,
  • Paola Carrera, PhD

      Affiliations

    • Clinical Molecular Biology Laboratory, Diagnostics and Research San Raffaele-Laboraf, Milan, Italy
    • San Raffaele Scientific Institute, Unit of Genomics for Diagnosis of Genetic Diseases, Milan, Italy

Received 19 September 2006 ,Revised 18 January 2007 ,Accepted 2 March 2007.

References 

  1. Nogee LM. Genetic mechanisms of surfactant deficiency. Biol Neonate. 2004;85:314–318
  2. Whitsett JA, Wert SE, Trapnell BC. Genetic disorders influencing lung formation and function at birth. Hum Mol Genet. 2004;13:207–215
  3. Nogee LM, deMello DE, Dehner LP, Colten HR. Deficiency of pulmonary surfactant protein B in congenital alveolar proteinosis. N Engl J Med. 1993;328:406
  4. Shulenin S, Nogee LM, Annilo T, Wert SE, Whitsett JA, Dean M. ABCA3 gene mutations in newborns with fatal surfactant deficiency. N Engl J Med. 2004;350:1296–1303
  5. Nogee LM, Dunbar AE, Wert SE, Askin F, Hamvas A, Whitsett JA. A mutation in the surfactant protein C gene associated with familial interstitial lung disease. N Engl J Med. 2001;344:573–579
  6. Williams GD, Christodoulou J, Stack J, Tobias V, Wert SE, Murrell MJ, et al. Surfactant protein B deficiency: clinical, histological and molecular evaluation. J Paediatr Child Health. 1999;35:214–220
  7. Nogee LM, Wert S, Proffit S, Hull W, Whitsett JA. Allelic heterogeneity in surfactant protein B deficiency. Am J Respir Crit Care Med. 2000;161:937–981
  8. Edwards V, Cutz E, Viero S, Moore AM, Nogee LM. Ultrastructure of lamellar bodies in congenital surfactant deficiency. Ultrastruct Pathol. 2005;29:503–509
  9. Somaschini M, Wert SE, Mangili G, Colombo A, Nogee LM. Hereditary surfactant protein B deficiency resulting from a novel mutation. Intensive Care Med. 2000;26:97–100
  10. Thompson JD, Gibson TJ, Plewniak F, Jeanmougin F, Higgins DG. The CLUSTAL_X windows interface: flexible strategies for multiple sequence alignment aided by quality analysis tools. Nucleic Acid Res. 1997;25:4876–4882
  11. Kruglyak L, Nickerson DA. Variation is the spice of life. Nat Genet. 2001;27:234–236
  12. Nogee LM. Alterations in SP-B and SP-C expression in neonatal lung disease. Annu Rev Physiol. 2004;66:601–623
  13. Tredano M, Griese M, de Blic J, Lorant T, Houdayer C, Schumacher S, et al. Analysis of 40 sporadic or familial neonatal and pediatric cases with severe unexplained respiratory distress: relationship to SFTPB. Am J Med Genet. 2003;119A:324–339
  14. Brasch F, Schimanski S, Muehlfeld C, Barlage S, Langmann T, Aslandis C, et al. Alteration of the pulmonary surfactant system in full-term infants with hereditary ABCA3 deficiency. Am J Respir Crit Care Med. 2005;172:1026–1031
  15. Dean M, Rzhetsky A, Allikmets R. The human ATP-binding cassette (ABC) transporter superfamily. Genome Res. 2001;11:1156–1166
  16. Yamano G, Funahashi H, Kawanami O, Zhao LX, Ban N, Uchida Y, et al. ABCA3 is a lamellar body membrane protein in human lung alveolar type II cells. FEBS Lett. 2001;508:221–225
  17. Hamvas A, Nogee LM, Mallory GB, Spray TL, Huddleston CB, August A, et al. Lung transplantation for treatment of infants with surfactant protein B deficiency. J Pediatr. 1997;130:231–239
  18. Klein JM, Thompson MW, Snyder JM, George TN, Whitsett JA, Bell EF, et al. Transient surfactant protein B deficiency in a term infant with severe respiratory failure. J Pediatr. 1998;132:244–248
  19. Dunbar AE, Wert SE, Ikegami M, Whitsett JA, Hamvas A, White FV, et al. Prolonged survival in hereditary surfactant protein B (SP-B) deficiency associated with a novel splicing mutation. Pediatr Res. 2000;48:275–282
  20. Bullard JE, Wert SE, Whitsett JA, Dean M, Nogee LM. ABCA3 mutations associated with pediatric interstitial lung disease. Am J Respir Crit Care Med. 2005;172:1026–1031
  21. Stuhrmann M, Bohnhorst B, Peters V, Bohle RM, Poets CF, Scmidtke J. Prenatal diagnosis of congenital alveolar proteinosis (surfactant protein B deficiency). Prenat Diagn. 1998;18:953–955

PII: S0022-3476(07)00242-9

doi: 10.1016/j.jpeds.2007.03.008

The Journal of Pediatrics
Volume 150, Issue 6 , Pages 649-653.e1 , June 2007

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