Interstitial lung disease due to SP-C deficiency

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Interstitial lung disease due to SP-C deficiency

Synonyms: Interstitial lung disease due to surfactant protein C deficiency

A rare genetic interstitial lung disease characterized by diffuse lung disease of variable phenotype ranging from severe respiratory insufficiency in infancy to asymptomatic adults due to surfactant protein C deficiency. Typical presentation in infancy includes dyspnea cough wheezing and gradual cyanosis with or without failure to thrive. Radiological findings include diffuse ground-glass opacities in neonates later interstitial thickening associated with lung hyperinflation intraparenchymal/subpleural cysts honeycombing subpleural nodules or bronchiectasis. Infiltrates and air leaks are frequent complications.

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: // Data version September 2023.

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Advocacy Organizations

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

Clinical Trials

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