Pulmonary alveolar microlithiasis
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 Though the course of the disease can be variable, many cases slowly progress to lung fibrosis, respiratory failure, or cor pulmonale. The only effective therapy is lung transplantation. In some cases, pulmonary alveolar microlithiasis is caused by mutations in the SLC34A2 gene and inherited in an autosomal recessive manner.Pulmonary alveolar microlithiasis is a disorder in which tiny fragments (microliths) of calcium phosphate gradually accumulate in the small air sacs (alveoli) of the lungs. These deposits eventually cause widespread damage to the alveoli and surrounding lung tissue (interstitial lung disease). People with this disorder may also develop a persistent cough and difficulty breathing (dyspnea), especially during physical exertion. Chest pain that worsens when coughing, sneezing, or taking deep breaths is another common feature. People with pulmonary alveolar microlithiasis may also develop calcium phosphate deposits in other organs and tissue of the body.
Last updated: 6/19/2015
- Pulmonary alveolar microlithiasis. Genetics Home Reference. December 2014; http://ghr.nlm.nih.gov/condition/pulmonary-alveolar-microlithiasis#glossary. Accessed 6/19/2015.
- Francisco, Flavia Angelica Ferreira, et al.. Pulmonary alveolar microlithiasis. State-of-the-art review.. Respir Med. Jan 2013; 107(1)::1-9. http://www.ncbi.nlm.nih.gov/pubmed/23183116. Accessed 6/19/2015.
- Al-Sardar, Hussain et al.. Pulmonary alveolar microlithiasis: report of two brothers with the same illness and review of literature. BMJ Case Rep.. Mar 31, 2014; http://www.ncbi.nlm.nih.gov/pubmed/?term=24686795. Accessed 6/19/2015.
- Genetics Home Reference (GHR) contains information on Pulmonary alveolar microlithiasis. This website is maintained by the National Library of Medicine.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- 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.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Pulmonary alveolar microlithiasis. Click on the link to view a sample search on this topic.