Congenital pulmonary alveolar proteinosis
Other Names for this Disease
- Pulmonary alveolar proteinosis, congenital
- Congenital PAP
- Hereditary pulmonary alveolar proteinosis
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respiratory failure that is present from birth. In this condition, a type of protein builds up in the air sacs (alveoli) of the lungs, making breathing difficult. Congenital pulmonary alveolar proteinosis is caused by mutations in the SFTPB, SFTPC, ABCA3, or CSF2RA gene, and it is typically inherited in an autosomal recessive pattern.Congenital pulmonary alveolar proteinosis is a rare form of
Last updated: 11/17/2010
- Blaivas AJ. Pulmonary alveolar proteinosis. MedlinePlus. May 21, 2009; http://www.nlm.nih.gov/medlineplus/ency/article/000114.htm. Accessed 11/17/2010.
- Kniffin, CL. Surfactant metabolism dysfunction, pulmonary 1. OMIM. April 24, 2007; http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=265120. Accessed 11/17/2010.
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- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
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- PubMed is a searchable database of medical literature and lists journal articles that discuss Congenital pulmonary alveolar proteinosis. Click on the link to view a sample search on this topic.
- Seymour JF, Presneill JJ. Pulmonary alveolar proteinosis: progress in the first 44 years. Am J Respir Crit Care Med. 2002 Jul 15;166(2):215-35.