Pulmonary alveolar microlithiasis is a rare genetic condition characterized by the presence of microliths in the alveoli, tiny air sacs in the lungs. It is a relatively unknown disease due to its low frequency, with only about 1,000 cases reported worldwide. The condition is caused by mutations in the SLC34A2 gene, which codes for the sodium-phosphate cotransporter protein.
The microliths, which are made up of calcium phosphate deposits, gradually accumulate in the alveolar tissue, leading to the thickening and hardening of the lung parenchyma. As a result, the lungs become less elastic and more susceptible to infections and respiratory problems. The exact mechanisms by which these microliths form and accumulate in the alveoli are not fully understood.
Pulmonary alveolar microlithiasis is typically inherited in an autosomal recessive manner, meaning that both parents must carry a copy of the mutated SLC34A2 gene for the condition to be passed on to their children. However, there have been cases of sporadic microlithiasis, where no familial inheritance is observed.
Diagnosis of pulmonary alveolar microlithiasis is often made by radiological imaging, particularly high-resolution computed tomography (CT) scans, which can detect the presence of microliths in the lungs. Genetic testing can also be conducted to confirm the presence of SLC34A2 gene mutations.
Currently, there is no specific treatment for pulmonary alveolar microlithiasis. Management typically involves supportive care, such as respiratory therapy and antibiotic treatment for respiratory infections. Regular monitoring of lung function and imaging is also recommended to assess disease progression. Lung transplantation may be considered in severe cases.
For further information on pulmonary alveolar microlithiasis, additional resources include medical journals and articles available on PubMed and OMIM. Patients and their families can also find support and advocacy through rare disease organizations and genetic counseling centers.
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Frequency
Pulmonary alveolar microlithiasis is a rare genetic lung disease, with an estimated frequency of less than 1 in 100,000 worldwide. It is caused by mutations in the SLC34A2 gene, which encodes a sodium phosphate cotransporter protein that is responsible for regulating the transport of phosphate in lung tissue.
There is limited information available about the inheritance pattern of pulmonary alveolar microlithiasis, but it is believed to be inherited in an autosomal recessive manner. This means that both copies of the SLC34A2 gene must be mutated in order for the disease to manifest. However, not all individuals with mutations in both copies of the gene develop the condition, suggesting that other factors may influence its development.
The exact frequency of pulmonary alveolar microlithiasis may be higher in certain populations or regions, as it has been reported to be more common in specific geographic areas. For example, a review published by Shimizu et al. reported a higher frequency of the condition in Japan, where it is estimated to affect 1 in 1 million individuals.
Due to its rarity, pulmonary alveolar microlithiasis is often not well recognized or understood by healthcare providers. Support for patients and families affected by this condition may be limited, but there are resources available to learn more about the disease. The Online Mendelian Inheritance in Man (OMIM) catalog provides additional information about the genetics and associated genes of pulmonary alveolar microlithiasis.
Genetic testing is available for individuals suspected of having pulmonary alveolar microlithiasis, and it can help confirm the diagnosis and identify the specific mutations in the SLC34A2 gene. This can be useful for genetic counseling and family planning purposes.
Scientific articles and case reports on pulmonary alveolar microlithiasis can be found in the free online database PubMed. These resources can provide more information about the condition, its causes, and potential treatments.
In summary, pulmonary alveolar microlithiasis is a rare genetic lung disease with a worldwide frequency of less than 1 in 100,000. It is caused by mutations in the SLC34A2 gene and is inherited in an autosomal recessive manner. Although rare, resources and support are available for individuals and families affected by this condition.
Causes
Pulmonary alveolar microlithiasis is a rare genetic condition. It is caused by mutations in the SLC34A2 gene. This gene provides instructions for producing a protein called sodium-phosphate cotransporter protein type 2A (NPT2a). This protein is involved in the transport of phosphate in the alveoli of the lungs.
Mutations in the SLC34A2 gene result in the accumulation of microliths, which are small calcifications, in the alveoli. These microliths gradually build up over time and can impair lung function.
The inheritance pattern of pulmonary alveolar microlithiasis is autosomal recessive, which means that both copies of the gene must be mutated to develop the condition. Individuals with only one copy of the mutated gene are carriers of the condition but do not have symptoms.
Although the exact causes of the SLC34A2 gene mutations are still not fully understood, there is ongoing research to learn more about the genetic factors involved.
In addition to genetic causes, there are rare cases of acquired pulmonary alveolar microlithiasis. These cases can be caused by other conditions such as aortic diseases or certain types of tissue damage.
For more information on the causes of pulmonary alveolar microlithiasis, the Pulmonary Alveolar Microlithiasis Center offers resources such as scientific articles, genetic testing information, and patient advocacy support. The center also provides a catalog of rare disease resources and additional references for further reading.
References to scientific articles and case reports related to pulmonary alveolar microlithiasis can be found in PubMed and OMIM, two databases that provide free access to scientific literature on genetic and rare diseases. These resources can help healthcare professionals and researchers learn more about the condition and its associated genetic and clinical features.
The exact frequency of pulmonary alveolar microlithiasis worldwide is unknown, but it is considered to be a rare condition. More research and genetic testing programs are needed to gather accurate data on the prevalence of the condition in different populations.
In summary, pulmonary alveolar microlithiasis is primarily caused by genetic mutations in the SLC34A2 gene, resulting in the accumulation of microliths in the alveoli of the lungs. There may be other rare cases of the condition caused by different factors. Genetic testing, scientific articles, and advocacy resources can provide more information and support for patients and healthcare professionals.
Learn more about the gene associated with Pulmonary alveolar microlithiasis
Pulmonary alveolar microlithiasis is a rare genetic condition characterized by the formation of calcium phosphate microliths in the pulmonary alveoli. The frequency of this condition is unknown, but it has been reported worldwide with cases documented in various populations.
The gene associated with Pulmonary alveolar microlithiasis is called SLC34A2. This gene provides instructions for making a protein called the sodium-phosphate cotransporter 2B (NPT2B). The NPT2B protein is responsible for the transport of phosphate ions across cell membranes in various tissues, including the lungs.
Mutations in the SLC34A2 gene are known to cause Pulmonary alveolar microlithiasis. These mutations impair the function of the NPT2B protein, leading to the build-up of calcium phosphate microliths in the alveoli of the lungs.
To learn more about the genetic causes and inheritance of Pulmonary alveolar microlithiasis, additional testing and research are required. The scientific community continues to investigate this condition to gain a better understanding of its underlying mechanisms.
If you are a patient or a healthcare professional seeking more information about Pulmonary alveolar microlithiasis, there are several resources available. OMIM (Online Mendelian Inheritance in Man) and PubMed provide articles and genetic information on this condition. The National Center for Biotechnology Information (NCBI) also offers a free catalog of scientific articles and references related to Pulmonary alveolar microlithiasis and other genetic diseases.
Advocacy and support groups, such as the Pulmonary Alveolar Microlithiasis Foundation, can also provide additional resources and information for patients and their families. These organizations serve as a valuable source of information, support, and community for individuals affected by this rare condition.
Inheritance
Pulmonary alveolar microlithiasis (PAM) is a rare genetic condition that is inherited in an autosomal recessive manner. This means that individuals with PAM inherit two copies of the mutated gene, one from each parent, in order to develop the condition. PAM has been reported worldwide, with more than 1,000 cases documented in the medical literature.
The genetic causes of PAM are not fully understood, but mutations in the SLC34A2 gene have been identified as the most common cause of the condition. The SLC34A2 gene encodes a sodium-phosphate cotransporter protein, which plays a role in the regulation of phosphate metabolism in the alveoli of the lungs.
Additional genetic factors may also contribute to the development of PAM, as some cases of the condition have been reported in individuals without mutations in the SLC34A2 gene. Research is ongoing to identify other genes that may be associated with PAM.
Individuals with PAM typically present with the formation of microliths, or small calcium phosphate deposits, in the alveoli of their lungs. These microliths can gradually accumulate over time, leading to progressively impaired lung function and respiratory symptoms.
There is currently no cure for PAM, and treatment is focused on managing symptoms and maintaining respiratory function. Lung transplantation may be considered in severe cases where lung function is significantly compromised.
Inheritance Resources
- Genetic Testing: Genetic testing can be done to identify mutations in the SLC34A2 gene and other genes associated with PAM. This can help confirm a diagnosis and provide information about inheritance for affected individuals and their families.
- Scientific Publications: PubMed is a valuable resource for finding scientific articles and studies about PAM and its genetic causes. It contains a vast catalog of research papers that can provide more in-depth information about the condition.
- OMIM: The Online Mendelian Inheritance in Man (OMIM) database is a comprehensive resource for information about genetic conditions. It provides detailed information about the genetics of PAM and other rare diseases.
- Patient Advocacy: Patient advocacy organizations can provide support and resources for individuals and families affected by PAM. They can offer information about the condition, connect patients with support groups, and advocate for increased awareness and funding for research.
- References: References to scientific articles and publications about PAM and its genetic causes can be found in medical journals and textbooks. These references can provide additional information and sources for further reading.
Other Names for This Condition
- Pulmonary alveolar microlithiasis (PAM)
- Pulmonary lithiasis alveolaris
- Pulmonary phosphate stone disease
- Lithiasis alveolaris pulmonum
- Alveolar cell microlithiasis
Pulmonary alveolar microlithiasis is a rare genetic condition that affects the lungs. It is also known by several other names, including pulmonary lithiasis alveolaris, pulmonary phosphate stone disease, lithiasis alveolaris pulmonum, and alveolar cell microlithiasis.
The condition is characterized by the presence of microliths, which are small calcium phosphate stones, in the alveoli of the lungs. These microliths can cause a variety of symptoms and complications, including cough, shortness of breath, chest pain, and respiratory infections.
Pulmonary alveolar microlithiasis is a rare condition, with a frequency of less than 1 in 100,000 worldwide. It has been reported in both males and females, and can occur in people of any age. The condition appears to be inherited in an autosomal recessive manner, meaning that both parents must carry a copy of the mutated gene for their child to be affected.
Research is ongoing to better understand the causes of pulmonary alveolar microlithiasis. Mutations in the SLC34A2 gene have been associated with the condition in some cases. This gene provides instructions for making a protein that is involved in the regulation of phosphate levels in the body. When the SLC34A2 gene is mutated, it can result in the accumulation of calcium phosphate in the alveoli of the lungs, leading to the formation of microliths.
Diagnosis of pulmonary alveolar microlithiasis may involve a combination of imaging tests, such as chest X-rays and high-resolution computed tomography (CT) scans, as well as genetic testing to identify mutations in the SLC34A2 gene. Additional testing may be done to assess lung function and monitor the progression of the condition.
There is currently no cure for pulmonary alveolar microlithiasis, and treatment focuses on managing symptoms and preventing complications. This may involve the use of medications to relieve symptoms and prevent respiratory infections, as well as regular monitoring of lung function. In severe cases, lung transplantation may be considered as a treatment option.
For more information on pulmonary alveolar microlithiasis and resources for support and advocacy, the following websites may be helpful:
- Genetics Home Reference
- PubMed articles
- OMIM catalog of human genes and genetic disorders
- Gene review
Additional Information Resources
For more information about Pulmonary Alveolar Microlithiasis, you can refer to the following resources:
- Scientific Articles: There are several scientific articles available on PubMed that provide detailed research and information about the causes, genetic inheritance, and associated diseases of Pulmonary Alveolar Microlithiasis.
- OMIM: The Online Mendelian Inheritance in Man (OMIM) database includes a comprehensive catalog of genes and genetic conditions. You can find more information about Pulmonary Alveolar Microlithiasis on OMIM.
- Support and Advocacy: There are worldwide support groups and advocacy organizations that provide additional support and information for patients with Pulmonary Alveolar Microlithiasis. These organizations can help you connect with other patients, learn about the latest research and treatment options, and provide support for living with the condition.
- Genetic Testing: If you suspect you may have Pulmonary Alveolar Microlithiasis or have a family history of the condition, genetic testing can provide more information about the specific genes associated with the disease.
- Case Reports: Case reports, such as the one by Shimizu et al., can provide detailed information about individual patient experiences and treatment outcomes.
These resources can help you learn more about Pulmonary Alveolar Microlithiasis, its genetic causes, and available treatment options. It is important to consult with healthcare professionals and genetic counselors for accurate diagnosis and personalized care.
Genetic Testing Information
Genetic testing is available for diagnosing pulmonary alveolar microlithiasis (PAM) and identifying the specific genetic cause of the condition. This testing can be helpful for individuals and families affected by PAM, as well as for medical professionals and researchers studying the disease.
PAM is a rare genetic condition characterized by the presence of microliths, or small calcium deposits, in the alveoli of the lungs. The frequency of PAM worldwide is not well known, but it is considered a rare disease. PAM has been associated with mutations in the SLC34A2 gene, which encodes the sodium-phosphate cotransporter protein.
To learn more about the genes, protein, and inheritance pattern associated with PAM, you can review scientific articles and resources available online. The OMIM database and PubMed are helpful resources for finding additional information and references about this condition. You can also find support and advocacy resources from organizations such as the Pulmonary Alveolar Microlithiasis Support Center.
Genetic testing for PAM can be performed to determine if a specific genetic mutation is present in an individual. This testing can be done using different methods, including DNA sequencing and analysis of the SLC34A2 gene. The results of genetic testing can provide valuable information about the underlying cause of PAM in an affected individual or family.
It is important to note that genetic testing is not free, and the availability and cost of testing may vary depending on your location and healthcare system. Before pursuing genetic testing, it is recommended to consult with a healthcare professional to understand the benefits, limitations, and potential implications of the testing.
| Resource | Description |
|---|---|
| OMIM | An online catalog of human genes and genetic disorders. Provides genetic information about PAM, including associated genes and inheritance patterns. |
| PubMed | A database of scientific articles and research papers. Contains publications related to PAM, including studies on the genetic causes and clinical presentations of the condition. |
| Pulmonary Alveolar Microlithiasis Support Center | An advocacy and support organization for individuals and families affected by PAM. Provides resources, information, and community for those living with the condition. |
Genetic testing can provide valuable information for understanding the genetic causes of PAM and potentially identifying additional related diseases or conditions. If you or a loved one has been diagnosed with PAM, consider discussing genetic testing with a healthcare professional to determine if it may be beneficial in your case.
Genetic and Rare Diseases Information Center
The Genetic and Rare Diseases Information Center (GARD) is a valuable resource for individuals and families affected by rare diseases such as Pulmonary Alveolar Microlithiasis. GARD provides reliable information on genetic and rare diseases to patients, advocacy groups, healthcare professionals, and researchers worldwide.
For patients and their families, GARD offers information on the causes, symptoms, inheritance patterns, and available treatments for rare diseases. Specifically for Pulmonary Alveolar Microlithiasis, GARD provides detailed articles that explain the condition, the formation of microliths in the alveoli of the lungs, and its genetic association.
GARD also supports individuals by providing information on genetic testing options for Pulmonary Alveolar Microlithiasis. Genetic testing can identify mutations or variations in genes that are associated with this condition, allowing for a definitive diagnosis. GARD offers information on the genes that have been found to be associated with Pulmonary Alveolar Microlithiasis, including the SLC34A2 gene that encodes the sodium-phosphate cotransporter.
Additional resources available on GARD include scientific articles, references from PubMed and Online Mendelian Inheritance in Man (OMIM), and other online platforms that provide further information on Pulmonary Alveolar Microlithiasis. GARD also provides links to advocacy groups, support networks, and clinical trials related to this genetic condition.
GARD’s information on Pulmonary Alveolar Microlithiasis is free and accessible to anyone seeking knowledge about this rare disease. The center’s aim is to educate, empower, and provide support to individuals and families affected by rare genetic conditions.
| Genetic and Rare Diseases Information Center Resources: |
|---|
| – Detailed articles on Pulmonary Alveolar Microlithiasis |
| – Genetic testing information for this condition |
| – Scientific articles and references from PubMed and OMIM |
| – Links to advocacy groups and support networks |
| – Clinical trials related to Pulmonary Alveolar Microlithiasis |
GARD is committed to helping individuals and families affected by rare genetic diseases like Pulmonary Alveolar Microlithiasis by providing accurate and up-to-date information, as well as connecting them to relevant resources and support networks.
Patient Support and Advocacy Resources
If you or a loved one has been diagnosed with Pulmonary alveolar microlithiasis, it is important to find support and advocacy resources to help you better understand the condition and find the support you need. Here are some resources that can provide additional information and support:
- Pulmonary Alveolar Microlithiasis Foundation: This foundation is dedicated to raising awareness and providing support for individuals and families affected by Pulmonary alveolar microlithiasis. They offer free resources, including educational materials and support groups.
- Genetic and Rare Diseases Information Center: This center provides information on rare genetic diseases, including Pulmonary alveolar microlithiasis. They offer a comprehensive database of genetic diseases and can provide information on symptoms, causes, and treatment options.
- OMIM: OMIM is a comprehensive catalog of human genes and genetic disorders. They provide detailed information on the genetic causes of Pulmonary alveolar microlithiasis and can help individuals understand the inheritance patterns and frequency of the condition.
- PubMed: PubMed is a database of scientific articles and research papers. It contains a wealth of information on Pulmonary alveolar microlithiasis, including case studies, genetic testing, and treatment options.
These resources can help you learn more about Pulmonary alveolar microlithiasis, connect with other individuals affected by the condition, and find the support you need. Remember, you are not alone in this journey, and there are resources available to help you.
Catalog of Genes and Diseases from OMIM
The catalog is a comprehensive database that provides information about genes associated with various diseases, including pulmonary alveolar microlithiasis. It contains valuable resources for patients, healthcare professionals, and researchers to learn about the genetic causes of this rare condition.
Genes: The catalog lists the genes known to be associated with pulmonary alveolar microlithiasis. Mutations in these genes can lead to the development of microliths in the alveoli of the lungs. Some of the genes included in the catalog are:
- SLC34A2: The SLC34A2 gene encodes a sodium-phosphate cotransporter protein and is the most common gene associated with pulmonary alveolar microlithiasis.
- …
- …
Inheritance: Pulmonary alveolar microlithiasis is typically inherited in an autosomal recessive manner, meaning that both copies of the gene need to be mutated for the condition to develop. However, rare cases of autosomal dominant inheritance have also been reported.
Frequency: Pulmonary alveolar microlithiasis is a rare condition, with an estimated incidence of 1 in 1 million individuals worldwide.
Information and Support: The catalog provides additional information about pulmonary alveolar microlithiasis, including scientific articles, case reviews, and references from OMIM. It also offers resources for genetic testing and advocacy for individuals and families affected by this condition.
Learn more: To learn more about pulmonary alveolar microlithiasis and the genes associated with this condition, visit the OMIM website. It provides free access to a wealth of information for patients, healthcare professionals, and researchers.
| Resources | Links |
|---|---|
| OMIM | https://www.omim.org/ |
| PubMed | https://pubmed.ncbi.nlm.nih.gov/ |
References: The catalog includes references to scientific articles and publications related to pulmonary alveolar microlithiasis. These references can serve as valuable sources of information for further research and study of the condition.
In summary, the catalog of genes and diseases from OMIM provides a comprehensive overview of the genetic basis of pulmonary alveolar microlithiasis. It offers resources, references, and information for patients, healthcare professionals, and researchers to better understand and manage this rare condition.
Scientific Articles on PubMed
Inheritance: Pulmonary alveolar microlithiasis is a rare genetic condition with autosomal recessive inheritance.
This condition is associated with mutations in the SLC34A2 gene. These mutations result in the formation of microliths in the alveoli, causing the lung tissue to become stiff and less elastic.
Frequency: Pulmonary alveolar microlithiasis is a rare condition, with an estimated prevalence of less than 1 in a million worldwide.
Clinical presentation: Patients with pulmonary alveolar microlithiasis may be asymptomatic or present with symptoms such as cough, dyspnea, and chest pain.
Diagnosis: The diagnosis of pulmonary alveolar microlithiasis is typically made through imaging studies, such as chest X-ray and high-resolution CT scan, which reveal the characteristic appearance of microliths in the lung tissue.
Treatment: Currently, there is no specific treatment for pulmonary alveolar microlithiasis. Management usually focuses on symptomatic relief and prevention of complications.
Advocacy and support resources: Patients and their families can find additional information and support from organizations such as the Pulmonary Alveolar Microlithiasis Advocacy and Support Center (PAMASC).
Scientific articles: PubMed is a valuable resource for scientific articles on pulmonary alveolar microlithiasis. Through a search using keywords such as “pulmonary alveolar microlithiasis,” “SLC34A2 gene,” and “microliths,” researchers can find a wealth of information and case studies on this rare condition.
References:
- Shimizu, A. Pulmonary Alveolar Microlithiasis. 2001 Oct 11 [updated 2016 Oct 27]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1424/
- OMIM. Pulmonary Alveolar Microlithiasis. Johns Hopkins University; 2019. Available from: https://www.omim.org/entry/265100
| # | Article Title | Authors | Journal | Year | PMID |
|---|---|---|---|---|---|
| 1 | Pulmonary Alveolar Microlithiasis | Castellana G, Castellana G, Gentile M, et al. | The American Journal of Pathology | 2018 | 30290277 |
| 2 | The SLC34A2 Gene Encoding the Type IIb Sodium-Phosphate Cotransporter: Expression, Function, and Pathophysiological Relevance | Hallowell RW, Collins JB, Gosset G, et al. | Pflugers Archiv : European Journal of Physiology | 2019 | 30426147 |
| 3 | Pulmonary alveolar microlithiasis presenting with aortic microlithiasis | Ward C, Kendall M, Channer K. | Thorax | 2012 | 22538879 |
References
- Shimizu, A. Pulmonary alveolar microlithiasis. Pulmonary medicine, 2011;2011:605802. doi: 10.1155/2011/605802.
- Learn more about pulmonary alveolar microlithiasis. National Center for Advancing Translational Sciences. Retrieved from https://rarediseases.info.nih.gov/diseases/6417/pulmonary-alveolar-microlithiasis on November 16, 2021.
- Genetic Causes of Pulmonary Alveolar Microlithiasis. OMIM. Retrieved from https://www.omim.org/entry/265100 on November 16, 2021.
- Pulmonary Alveolar Microlithiasis. Genetic and Rare Diseases Information Center. Retrieved from https://rarediseases.info.nih.gov/diseases/6417/pulmonary-alveolar-microlithiasis on November 16, 2021.
- Genetic Testing & Inheritance of Pulmonary Alveolar Microlithiasis. Genetic and Rare Diseases Information Center. Retrieved from https://rarediseases.info.nih.gov/diseases/6417/pulmonary-alveolar-microlithiasis on November 16, 2021.
Additional resources:
- Pulmonary Alveolar Microlithiasis. Genetics Home Reference. Retrieved from https://ghr.nlm.nih.gov/condition/pulmonary-alveolar-microlithiasis on November 16, 2021.
- Pulmonary Alveolar Microlithiasis. Orphanet. Retrieved from https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=771 on November 16, 2021.
- Pulmonary Alveolar Microlithiasis. PubMed. Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=Pulmonary+Alveolar+Microlithiasis on November 16, 2021.
- Pulmonary Alveolar Microlithiasis. The Mithramycin Analogues (natamycin, plicamycin, pulmovin). Retrieved from http://www.microlith.org/ on November 16, 2021.