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Updated: May 25, 2026
07:20
Lavage-induced Surfactant Depletion in Pigs As a Model of the Acute Respiratory Distress Syndrome (ARDS)
Published on: September 7, 2016
[Genetic disorders of surfactant]
R Epaud1, L Jonard, H Ducou-le-Pointe
1Service de pédiatrie, centre hospitalier intercommunal de Créteil, 40, avenue de Verdun, 94000 Créteil, France. ralph.epaud@chicreteil.fr
Summary
Rare lung diseases linked to surfactant metabolism disorders cause respiratory issues due to protein buildup. This review covers clinical signs, diagnostics, and treatments for these surfactant protein deficiencies.
Area of Science:
- Pulmonary medicine
- Genetics
- Biochemistry
Context:
- Surfactant dysfunction in the lungs leads to intra-alveolar protein accumulation.
- This condition manifests as cough, hypoxemia, and diffuse infiltrative pneumonia.
- It affects both newborns and children, presenting as a significant rare disorder group.
Purpose:
- To review the clinical presentation of lung diseases related to surfactant metabolism disorders.
- To outline the diagnostic tools available for these rare conditions.
- To discuss current and potential treatment options for affected individuals.
Summary:
- Inherited deficiencies in pulmonary surfactant protein B (SP-B), SP-C, ABCA3, or NKX2-1 cause rare lung diseases.
- These disorders result in respiratory failure in newborns and diffuse infiltrative pneumonia in children.
- The review details clinical features, diagnostic approaches, and therapeutic strategies.
Impact:
- Enhances understanding of heterogeneous rare lung diseases.
- Provides a comprehensive overview for clinicians and researchers.
- Aids in the diagnosis and management of surfactant metabolism disorders.
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