pulmonary surfactant protein deficiency
Rare genetic disorder affecting surfactant protein production, causing severe neonatal and childhood respiratory disease.
Full Definition
Pulmonary surfactant protein deficiency encompasses rare genetic disorders affecting the production or function of surfactant proteins SP-B, SP-C, or ABCA3, which are essential for maintaining alveolar stability and gas exchange. These hereditary conditions can cause severe neonatal respiratory distress resembling hyaline membrane disease, or present later in childhood with interstitial lung disease patterns. SP-B deficiency is typically fatal without lung transplantation, while SP-C and ABCA3 deficiencies may have variable presentations and outcomes. Diagnosis requires genetic testing and specialized biochemical analyses, as conventional surfactant replacement therapy is often ineffective.
Usage
Usage note: Specify which surfactant protein is affected (SP-A, SP-B, SP-C, or ABCA3) when known; consider in familial cases or atypical presentations.
In Context
- "Genetic testing confirmed pulmonary surfactant protein deficiency (SP-B) in the term infant with severe, persistent respiratory failure." — Genetics consultation report
- "The family history of consanguinity raised suspicion for pulmonary surfactant protein deficiency in the affected neonate." — Specialist evaluation notes