Neonatal acute respiratory distress due to SP-B deficiency

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Neonatal acute respiratory distress due to SP-B deficiency

Synonyms: Neonatal acute respiratory distress due to surfactant protein B deficiency

A rare genetic interstitial lung disease characterized by progressive life-threatening refractory respiratory distress in full-term neonates associated with surfactant protein B deficiency. In most cases the disease is fatal within the first months of life. Lung biopsy reveals changes characteristic of pulmonary alveolar proteinosis with interstitial fibrosis and inflammation as well as accumulation of lipid-rich eosinophilic proteinaceous granular material consisting of desquamated type II pneumocytes and foamy macrophages within the alveolar air spaces.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version May 2024

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