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.
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