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Protocol and Guidelines for Point-of-Care Lung Ultrasound in Diagnosing Neonatal Pulmonary Diseases Based on International Expert Consensus
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[Lung diseases in children associated with inherited disorders of surfactant metabolism]

C Delestrain1, F Flamein, L Jonard

  • 1Inserm, U955, équipe 11, 94000 Créteil, France.

Revue De Pneumologie Clinique
|July 17, 2013
PubMed

Insights

Genetic mutations in pulmonary surfactant proteins (SP-B, SP-C) and related genes (ABCA3, NKX2-1) cause respiratory failure in infants and diffuse infiltrative pneumonia in children. These genetic lung disorders present with cough, hypoxemia, and specific radiological findings.

Area of Science:

  • Pulmonary medicine
  • Genetics
  • Biochemistry

Context:

  • Pulmonary surfactant, a lipid-protein mixture, is crucial for lung function by reducing surface tension.
  • Mutations in surfactant proteins (SP-B, SP-C) and associated genes (ABCA3, NKX2-1) are linked to neonatal respiratory failure and childhood diffuse infiltrative pneumonia.
  • Surfactant dysfunction leads to intra-alveolar protein accumulation, causing respiratory symptoms and characteristic radiological findings.

Purpose:

  • To review the clinical and radiological features of genetic disorders caused by surfactant dysfunction.
  • To discuss the treatment and outcomes associated with these rare lung diseases.
  • To highlight the role of specific genes in maintaining lung health and the consequences of their mutations.

Summary:

  • Recessive loss-of-function mutations in pulmonary surfactant protein B (SP-B) were first identified in infants with respiratory failure.
  • Mutations in surfactant protein C (SP-C), ABCA3, and NKX2-1 genes are also implicated in neonatal respiratory distress and diffuse infiltrative pneumonia in children.
  • Clinical manifestations include cough, hypoxemia, ground-glass opacities, and lung cysts, stemming from intra-alveolar protein accumulation due to surfactant dysfunction.

Impact:

  • Enhances understanding of the genetic basis of rare lung diseases.
  • Provides a comprehensive overview for clinicians managing patients with these conditions.
  • Informs future research directions for therapeutic strategies targeting surfactant dysfunction.

Keywords:
ABCA3Détresse respiratoireNKX2-1Protéine B du surfactantProtéine C du surfactant ABCA3Respiratory distressSurfactantSurfactant proteinSurfactant protein BSurfactant protein C

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