Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency

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Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency

Synonyms: Hereditary pulmonary alveolar proteinosis with hepatic involvement | Interstitial lung and liver disease | PAP, Reunion island type | Pulmonary alveolar proteinosis, Reunion island type

A rare genetic interstitial lung disease characterized by accumulation of lipoproteins in the pulmonary alveoli leading to restrictive lung disease and respiratory failure. Patients present with dyspnea tachypnea cough failure to thrive and digital clubbing. Liver disease have been described in some cases including hepatomegaly steatosis fibrosis or cirrhosis.

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 February 2024

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Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency?

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