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Surfactant protein B deficiency: the RespiRare cohort
Manon Fleury1, Céline Delestrain2,3, Léa Roditis4
1Assistance Publique - Hôpitaux de Paris, Pediatric Pulmonology Department and Reference Center for Rare Lung Diseases RespiRare, Armand Trousseau Hospital, Sorbonne University, Paris, France.
Thorax
|December 4, 2024
Summary
Severe surfactant protein (SP)-B deficiency causes fatal infant lung disease. However, extremely rare hypomorphic variants with partial SP-B function may allow survival in children with interstitial lung disease.
Area of Science:
- Pulmonology
- Genetics
- Pediatrics
Background:
- Childhood interstitial lung diseases (chILD) are rare and severe respiratory disorders.
- Surfactant protein (SP)-B deficiency is a very rare cause of fatal chILD.
- The RespiRare network collects detailed phenotypic and genotypic data on rare respiratory diseases.
Purpose of the Study:
- To analyze the clinical and genotypic spectrum of SP-B deficiency in a cohort of 11 patients.
- To understand the correlation between SP-B variants and disease severity and outcomes in chILD.
- To identify factors influencing survival in SP-B deficient infants.
Main Methods:
- Retrospective analysis of 11 patients with SP-B deficiency.
- Collection and review of phenotypic data (symptoms, age of onset, survival).
- Genotypic analysis to identify SP-B variants and assess their functional impact (loss-of-function vs. hypomorphic).
Main Results:
- Patients with complete SP-B deficiency due to severe loss-of-function variants presented at birth and had a median survival of 1 month.
- Extremely rare cases with hypomorphic SP-B variants showed partially preserved protein function and survived.
- The study highlights a spectrum of outcomes based on the severity of SP-B deficiency.
Conclusions:
- Complete SP-B deficiency leads to severe, often fatal, neonatal respiratory failure.
- Hypomorphic SP-B variants may confer a milder phenotype and allow for survival in chILD.
- Genotype-phenotype correlations are crucial for understanding and managing SP-B deficiency in children.
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