Pulmonary alveolar microlithiasis

Title

Categories:

Congenital and Genetic Diseases; Lung Diseases

Summary Summary

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.^[1] Though the course of the disease can be variable, many cases slowly progress to lung fibrosis, respiratory failure, or cor pulmonale.^[2]^[3] The only effective therapy is lung transplantation.^[2]^[3] In some cases, pulmonary alveolar microlithiasis is caused by mutations in the SLC34A2 gene and inherited in an autosomal recessive manner.^[1]^[2]

Last updated: 6/19/2015

Symptoms Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms	Other Names	Learn More: HPO ID
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance		0000007
Diffuse		0020034
Intraalveolar nodular calcifications		0006514
Onset		0003674
Progressive pulmonary function impairment		0006520
Restrictive deficit on pulmonary function testing		0002111
Slow progression	Signs and symptoms worsen slowly with time	0003677

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Last updated: 11/1/2018

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Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

The Rare Lung Diseases Consortium: Molecular Pathway-Driven Diagnostics and Therapeutics for Rare Lung Diseases is an integrated group of academic medical centers, patient support organizations, and clinical research resources dedicated to conducting clinical research involving pulmonary alveolar proteinosis, Hermansky-Pudlak Syndrome, and Lymphangioleiomyomatosis. A pilot project program supports research into other rare lung diseases that complement the main research projects.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

Genetics Home Reference (GHR) contains information on Pulmonary alveolar microlithiasis. This website is maintained by the National Library of Medicine.

In-Depth Information

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.

News & Events News & Events

News

The NIH Undiagnosed Diseases Network Expands
September 26, 2018

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References References

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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