Interstitial lung disease due to SP-C deficiency

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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://www.orphadata.org. Data version May 2024

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Clinical Trials

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