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 March 2024

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Severe early-onset pulmonary alveolar proteinosis due to MARS 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

Clinical Trials

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