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 http://www.orphadata.org. Data version April 2024
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Neonatal acute respiratory distress due to SP-B deficiency?
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Breathe Support Network
MISSION STATEMENT The Breathe Support Networks mission is to provide support and education for pulmonary fibrosis patients and their families, helping them to better #LIVEwithPF. This includes, but is not limited to: - education about pulmonary fibrosis - guiding patients and families on how to talk to their healthcare team - providing tips to live a healthier more productive life - providing information about other pulmonary fibrosis resources
Help Hope Live
Help Hope Live assists individuals living with catastrophic injuries and illnesses to fundraise toward their medical expenses and related costs.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
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