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Surfactant Depletion Combined with Injurious Ventilation Results in a Reproducible Model of the Acute Respiratory Distress Syndrome (ARDS)
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Genetic disorders of surfactant dysfunction

Susan E Wert1, Jeffrey A Whitsett, Lawrence M Nogee

  • 1Perinatal Institute, Section of Neonatology, Perinatal and Pulmonary Biology, Cincinnati Children's Hospital Medical Center, and the Department of Pediatrics, University of Cincinnati College of Medicine, 3333 Burnet Avenue, Cincinnati, OH 45229-3039, USA. susan.wert@cchmc.org

Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
|February 18, 2009
PubMed

Insights

Mutations in surfactant protein B (SP-B), surfactant protein C (SP-C), and ABCA3 genes cause pediatric lung diseases. This review details their overlapping clinical and ultrastructural features, aiding diagnosis.

Area of Science:

  • Pulmonary Medicine
  • Genetics
  • Pediatric Respiratory Diseases

Background:

  • Mutations in SFTPB (SP-B), SFTPC (SP-C), and ABCA3 genes are linked to pediatric respiratory distress and interstitial lung disease.
  • Pulmonary surfactant, crucial for lung function at birth, comprises lipids and proteins (SP-B, SP-C) and is regulated by ABCA3.
  • SP-B and ABCA3 are vital for surfactant phospholipid organization in lamellar bodies; SP-B and SP-C facilitate adsorption to the alveolar surface.

Purpose of the Study:

  • To review and compare the clinical, histochemical, and ultrastructural features of lung diseases caused by mutations in SP-B, SP-C, and ABCA3.
  • To discuss the similarities and differences in disease presentation and pathogenesis.
  • To provide insights into surfactant metabolism and its role in these genetic disorders.

Main Methods:

  • Review of existing literature on genetic mutations affecting surfactant proteins and ABCA3.
  • Analysis of clinical presentations, histopathology, and ultrastructural findings.
  • Discussion of developmental regulation and functional roles of surfactant components.

Main Results:

  • SFTPB mutations typically cause fatal neonatal respiratory distress.
  • SFTPC mutations are more commonly associated with interstitial lung disease in older children and adults.
  • ABCA3 mutations can lead to both phenotypes, highlighting significant overlap in clinical and histological characteristics.

Conclusions:

  • Despite general classifications, significant overlap exists in the presentation of SP-B, SP-C, and ABCA3-related lung diseases.
  • Understanding histochemical and ultrastructural features is crucial for differentiating these genetic disorders.
  • Further research into pathogenic mechanisms and surfactant metabolism is needed for improved therapeutic strategies.

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