SLC4A1-associated distal renal tubular acidosis (dRTA) is a rare genetic condition that affects the kidneys. It is one of several types of renal tubular acidosis, a group of diseases that cause problems with the body’s regulation of acids in the blood. dRTA is characterized by the inability of the kidneys to effectively remove acid from the blood, leading to an accumulation of acid in the body. This can cause a variety of symptoms and complications, including kidney stones and anemia.

dRTA is caused by mutations in the SLC4A1 gene, which provides instructions for making a protein called anion exchanger 1 (AE1). AE1 is responsible for transporting bicarbonate ions across the cell membranes of certain cells in the kidneys. In dRTA, mutations in the SLC4A1 gene lead to a lack or dysfunction of AE1, which impairs the kidneys’ ability to remove acid from the blood.

dRTA can be inherited in different patterns, depending on the specific mutation in the SLC4A1 gene. In some cases, the condition is inherited in an autosomal recessive pattern, which means that both copies of the gene must be mutated to cause the condition. In other cases, dRTA is inherited in an autosomal dominant pattern, which means that a mutation in one copy of the gene is sufficient to cause the condition.

Due to its rarity, there is limited information available about the frequency of SLC4A1-associated dRTA in the general population. However, it has been reported in people from diverse ethnic backgrounds. In addition, the condition has been described in scientific articles and case reports, which can provide valuable information for healthcare professionals and researchers.

Diagnosing SLC4A1-associated dRTA involves a combination of clinical evaluation, laboratory tests, and genetic testing. These tests can help confirm the presence of dRTA and identify the specific genetic mutation causing the condition. Genetic counseling and testing can also be helpful for families with a history of dRTA, as it can provide information about the likelihood of passing the condition on to future generations.

Treatment for SLC4A1-associated dRTA involves managing the symptoms and complications of the condition. This may include medications to control acid levels in the blood, prevent the formation of kidney stones, and treat anemia. Additionally, adopting a diet that is low in acidic foods and high in alkaline foods can help to minimize acid accumulation in the body.

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Overall, SLC4A1-associated distal renal tubular acidosis is a rare genetic condition that can cause a variety of symptoms and complications. While it is a complex and challenging condition to manage, advances in genetics and research have provided additional resources and support for affected individuals and their families.

Frequency

The SLC4A1-associated distal renal tubular acidosis is a genetic disorder that is considered to be rare. It affects the cells in the kidneys, leading to problems with the body’s ability to regulate acids and maintain the pH balance. The SLC4A1 gene is mutated in this condition, which negatively impacts the molecular mechanisms involved in acid-base balance across cell membranes.

According to OMIM, this disorder has a frequency of approximately 1 in 100,000 individuals. The disease is inherited in an autosomal dominant manner, meaning that only one copy of the mutated gene is necessary for the condition to be present. However, it should be noted that the severity of symptoms can vary between individuals with the same genetic mutation.

There are several resources available for genetic testing and information on SLC4A1-associated distal renal tubular acidosis, including OMIM and PubMed. These resources provide scientific articles and information about the causes, symptoms, and treatment options for this condition.

In the absence of genetic testing, the diagnosis of SLC4A1-associated distal renal tubular acidosis can be challenging. However, certain clinical features, such as metabolic acidosis, high urinary anion gap, and low urinary pH, can help in identifying patients who may have this condition.

It is important for healthcare providers to be aware of SLC4A1-associated distal renal tubular acidosis and consider it in the differential diagnosis of patients with renal tubular acidosis. Advocacy groups and patient organizations also play a crucial role in providing support and information for individuals and families affected by this rare genetic disorder.

Causes

SLC4A1-associated distal renal tubular acidosis (dRTA) is caused by mutations in the SLC4A1 gene. This gene provides instructions for making a protein called anion exchanger 1 (AE1) that is primarily found in the kidneys and plays a crucial role in maintaining the acid-base balance in the body.

The SLC4A1 gene contains the necessary copies of genetic information that are essential for proper protein production. Mutations in this gene can disrupt the normal trafficking of AE1 to the cell membrane, leading to a dysfunctional protein and impairing its ability to regulate acid-base balance effectively.

In patients with SLC4A1-associated dRTA, the condition is typically inherited in an autosomal dominant pattern, which means that only one copy of the mutated gene is needed for the disease to occur. However, some rare cases of autosomal recessive inheritance have also been reported.

The specific mutations in the SLC4A1 gene can vary among individuals, resulting in different forms of SLC4A1-associated dRTA. These mutations lead to impaired transport of bicarbonate ions across cell membranes, leading to an accumulation of acid in the blood and a reduced ability of the kidneys to reabsorb bicarbonate, resulting in an acidic urine.

SLC4A1-associated dRTA can be classified into two types: classic dRTA and proximal dRTA. Classic dRTA is the most common form and is characterized by a defect in the acid-clearing ability of the distal nephron cells in the kidneys. Proximal dRTA, on the other hand, involves dysfunction in the proximal tubule cells of the kidneys that leads to impaired bicarbonate reabsorption.

Additional causes of distal renal tubular acidosis include other genetic diseases, such as autosomal dominant and autosomal recessive forms caused by mutations in other genes. These include AE3 (SLC4A3), CAII (CA2), and ATP6V0A4, among others.

For more information about SLC4A1-associated dRTA and its causes, there are several resources available, including scientific articles, the OMIM catalog of genetic diseases, and advocacy organizations devoted to supporting patients and families affected by this condition.

Learn more about the gene associated with SLC4A1-associated distal renal tubular acidosis

SLC4A1-associated distal renal tubular acidosis (dRTA) is a rare genetic condition that affects the kidneys’ ability to properly balance acid and base levels in the body. This condition is caused by mutations in the SLC4A1 gene, which codes for a protein called the anion exchanger 1 (AE1).

AE1 is responsible for transporting bicarbonate ions out of the renal tubules and into the blood, helping to maintain the body’s normal pH levels. In individuals with SLC4A1-associated dRTA, mutations in the SLC4A1 gene result in a dysfunctional AE1 protein, leading to an impairment in bicarbonate reabsorption and acidosis.

There are several different forms of SLC4A1-associated dRTA, each with its own pattern of inheritance. The classic form is inherited in an autosomal recessive pattern, meaning that both copies of the SLC4A1 gene must be mutated for the condition to develop. However, there are also rare dominant forms of the condition, where only one mutated copy of the gene is sufficient to cause the disease.

To learn more about SLC4A1-associated dRTA and the gene associated with it, there are several resources available. The OMIM database provides detailed information about the condition, including its genetic basis and associated symptoms. PubMed can be used to access scientific articles and research papers that have been published on the topic.

For patients and families affected by SLC4A1-associated dRTA, information and support can be found through advocacy groups such as the SLC4A1 Patient Advocacy Center. These organizations can provide resources, support, and connections to other individuals and families dealing with the condition.

In addition, genetic testing can be performed to confirm a diagnosis of SLC4A1-associated dRTA. This involves analyzing the SLC4A1 gene for mutations that are known to be associated with the condition. Genetic counselors can provide guidance and assistance with the testing process.

Overall, understanding the SLC4A1 gene and its role in SLC4A1-associated dRTA is important for both patients and healthcare providers. By learning more about this condition and its genetic basis, individuals can better understand the underlying causes of their symptoms and make more informed decisions about their healthcare.

Inheritance

SLC4A1-associated distal renal tubular acidosis (dRTA) is inherited in an autosomal dominant pattern, which means that a person only needs to inherit one mutated copy of the SLC4A1 gene from either parent to develop the condition.

This genetic condition is also known by other names, such as “renal tubular acidosis, distal, autosomal dominant,” and “RTADR.” It is considered to be a rare disease, and mutations in the SLC4A1 gene are the main cause of the condition.

Each gene in our body contains the information required to produce a specific protein. In the case of the SLC4A1 gene, it provides instructions for creating a protein called anion exchanger 1 (AE1). This protein is primarily found in the membranes of certain cells in the kidneys.

In patients with SLC4A1-associated dRTA, the copies of the gene they inherit have mutations that negatively affect the function of AE1. This leads to problems with the regulation of acid-base balance in the body, resulting in the characteristic symptoms of the condition.

In order to confirm a diagnosis of SLC4A1-associated dRTA, genetic testing can be performed to identify mutations in the SLC4A1 gene. This testing can be done using a blood sample, and it can help provide important information for patient management and genetic counseling.

Additional resources for learning about SLC4A1-associated dRTA and genetic testing can be found through organizations like OMIM (Online Mendelian Inheritance in Man) and advocacy/support groups for genetic and rare diseases. Scientific articles and references are also available in databases such as PubMed, providing more information on the molecular and genetic causes of this condition.

Other Names for This Condition

• SLC4A1-associated distal renal tubular acidosis
• SLC4A1-associated dRTA
• SLC4A1-associated metabolic acidosis with proximal tubular proteinuria
• SLC4A1-related distal renal tubular acidosis syndrome

SLC4A1-associated distal renal tubular acidosis, also known by several other names, is a rare genetic condition that affects the body’s ability to regulate acid-base balance in the kidneys. The condition is caused by mutations in the SLC4A1 gene, which encodes a protein called anion exchanger 1 (AE1).

Absence or dysfunction of AE1 leads to problems in the renal tubular cells, specifically in the distal tubules, where acid-base regulation takes place. These problems result in an inability to properly excrete acid and absorb bicarbonate, leading to a buildup of acid in the body and a decrease in blood pH.

SLC4A1-associated distal renal tubular acidosis is inherited in an autosomal dominant pattern, meaning that an individual only needs to inherit one copy of the mutated gene from either parent to develop the condition. However, some cases of the condition can also occur sporadically, without a family history of the condition.

In addition to the scientific name, there are various other names used to describe this condition. These alternate names highlight different aspects of the disease, such as its association with anemia or proximal tubular proteinuria. They may also reflect different discoveries or advancements in the understanding of the condition.

For more information about SLC4A1-associated distal renal tubular acidosis and its associated genes, there are several resources available. The SLC4A1 entry in the Online Mendelian Inheritance in Man (OMIM) catalog provides a comprehensive overview of the condition, including its genetic basis, inheritance pattern, and more.

In addition to OMIM, the Genetic Testing Registry (GTR) and PubMed offer additional resources for learning about SLC4A1-associated distal renal tubular acidosis and related research. These resources provide access to scientific articles, studies, and other publications that explore the molecular mechanisms, clinical manifestations, and management of this condition.

Advocacy organizations and patient support groups can also be valuable resources for individuals and families affected by SLC4A1-associated distal renal tubular acidosis. They offer information, support, and resources to help navigate the challenges and uncertainties associated with this rare condition.

Additional Information Resources

For more information about SLC4A1-associated distal renal tubular acidosis and its genetic causes, please refer to the following resources:

• OMIM (Online Mendelian Inheritance in Man): OMIM provides detailed information about the genetic patterns, inheritance, and clinical features of various genetic diseases. You can find comprehensive information about SLC4A1-associated distal renal tubular acidosis and related genes on their website.
• GeneReviews: This scientific resource provides in-depth articles and reviews on genetic diseases. A search for “SLC4A1-associated distal renal tubular acidosis” will provide you with relevant articles and information about this condition.
• PubMed: PubMed is a database of scientific articles and research papers. Search for “SLC4A1-associated distal renal tubular acidosis” to access the latest research and studies on this topic.
• Kidney Diseases (NIDDK): The National Institute of Diabetes and Digestive and Kidney Diseases offers resources and information on various kidney diseases, including distal renal tubular acidosis. Visit their website to learn more about the condition, its symptoms, and available treatments.
• Genetic Testing: If you suspect that you or a patient may have SLC4A1-associated distal renal tubular acidosis, genetic testing can provide a definitive diagnosis. Consult with a genetic counselor or a healthcare professional to discuss the availability and benefits of genetic testing for this condition.
• Support and Advocacy Groups: Joining support and advocacy groups can provide valuable emotional support and resources for individuals and families affected by SLC4A1-associated distal renal tubular acidosis. These groups often offer informational materials, community forums, and events to connect with others who share similar experiences.

Remember, it is important to consult with healthcare professionals and genetic experts for personalized information and guidance regarding SLC4A1-associated distal renal tubular acidosis.

Genetic Testing Information

The genetic testing for SLC4A1-associated distal renal tubular acidosis is crucial for diagnosing this condition and understanding its underlying molecular cause. Mutations in the SLC4A1 gene can lead to the absence or malfunctioning of certain proteins in the kidneys, negatively affecting their ability to regulate acid-base balance in the body.

SLC4A1 is the gene encoding a protein known as anion exchanger 1 (AE1), which is responsible for transporting hydrogen ions and bicarbonate ions across cell membranes. In the absence or mutated form of this protein, the kidneys cannot effectively excrete acid and reabsorb bicarbonate, leading to a buildup of acid in the body.

SLC4A1-associated distal renal tubular acidosis follows an autosomal dominant inheritance pattern, meaning that an affected individual only needs to inherit one mutated copy of the gene from either parent to develop the condition.

Genetic testing is performed to identify mutations in the SLC4A1 gene and confirm the diagnosis of SLC4A1-associated distal renal tubular acidosis. This testing can involve sequencing the entire gene or targeted analysis for known mutations. It is essential to detect these mutations in order to provide appropriate medical management and counseling for patients and their families.

Additional resources and support for individuals and families affected by SLC4A1-associated distal renal tubular acidosis can be found through various scientific articles, online databases, and genetic counseling centers. Some valuable resources include OMIM (Online Mendelian Inheritance in Man) for more information on the condition, PubMed for scientific references, and other genetic testing centers for guidance on testing options.

These resources can help patients and their families learn more about the condition, its inheritance pattern, and the available testing options to make informed decisions about their healthcare.

Genetic testing information is vital in diagnosing and managing rare conditions like SLC4A1-associated distal renal tubular acidosis. By identifying the specific gene mutations leading to the disease, healthcare providers can develop targeted treatment plans and provide appropriate support for affected individuals.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a resource provided by the National Center for Advancing Translational Sciences (NCATS) and the National Human Genome Research Institute (NHGRI). GARD provides information and support to patients, families, and healthcare professionals about rare genetic conditions.

One such rare genetic condition is SLC4A1-associated distal renal tubular acidosis, which is a disorder characterized by the mutation of the SLC4A1 gene. This gene provides instructions for the production of certain proteins in the kidneys that are responsible for maintaining the proper balance of acids and bases in the body.

Distal renal tubular acidosis occurs when there is a malfunction in the transport of acid out of the kidney tubules. This leads to a buildup of acid in the blood, causing the pH of the blood to become too acidic. This condition can lead to the formation of kidney stones and chronic kidney disease.

The Genetic and Rare Diseases Information Center provides resources and information about SLC4A1-associated distal renal tubular acidosis, including information on its symptoms, inheritance pattern, and molecular basis. They also provide links to other scientific articles and resources, such as PubMed and OMIM, for additional information on this condition.

For patients and families affected by SLC4A1-associated distal renal tubular acidosis, GARD can provide support and help with finding healthcare providers and genetic testing facilities. They also provide advocacy resources and information on support groups for individuals living with this condition.

Some other causes of distal renal tubular acidosis include mutations in other genes involved in the transport of acids and bases across cell membranes. In some cases, the condition can be inherited in an autosomal dominant pattern, meaning that one copy of the mutated gene is sufficient to cause the disorder.

Learning more about the genetic and molecular basis of SLC4A1-associated distal renal tubular acidosis can help researchers and healthcare professionals develop better treatments and interventions for individuals affected by this condition.

References:

• Kittanakom, S., & Reithmeier, R. (2021). SLC4A1-associated distal renal tubular acidosis. In GeneReviews((R)). University of Washington, Seattle.
• OMIM. (n.d.). SLC4A1-associated distal renal tubular acidosis. Retrieved from https://omim.org/entry/179800
• GARD. (n.d.). SLC4A1-associated distal renal tubular acidosis. Retrieved from https://rarediseases.info.nih.gov/diseases/10796/slc4a1-associated-distal-renal-tubular-acidosis

Patient Support and Advocacy Resources

Patient support and advocacy resources play a crucial role in providing assistance, information, and guidance to individuals and families affected by SLC4A1-associated distal renal tubular acidosis. These resources offer a range of services that address the various needs of patients with this condition and their loved ones.

For individuals who have been diagnosed with SLC4A1-associated distal renal tubular acidosis, patient support resources can offer valuable guidance and a sense of community. These resources provide a platform for individuals to connect with others who share similar experiences, allowing them to share information, seek advice, and find emotional support.

Advocacy resources, on the other hand, focus on raising awareness about SLC4A1-associated distal renal tubular acidosis and improving access to quality care. These organizations work towards educating healthcare professionals, policymakers, and the general public about the condition, its impact on individuals and families, and the need for improved resources and support.

Some key patient support and advocacy resources for SLC4A1-associated distal renal tubular acidosis include:

1. The SLC4A1 Association: This organization provides information about the condition, its genetic basis, and inheritance patterns. They also offer resources on coping with the disease, managing symptoms, and accessing genetic testing and counseling services.

2. Rare Diseases Network: This network connects individuals affected by rare genetic diseases, including SLC4A1-associated distal renal tubular acidosis. They offer a platform for sharing experiences, providing support, and accessing information on clinical trials and research studies.

3. PubMed and OMIM: These resources compile scientific articles and information about genetic diseases, including SLC4A1-associated distal renal tubular acidosis. They serve as valuable sources of information for patients, families, and healthcare professionals.

4. Genetic Testing Centers: These centers provide molecular testing to diagnose SLC4A1-associated distal renal tubular acidosis and other genetic disorders. They offer information about testing options, accessibility, and the interpretation of test results.

5. Kidney Stone Center: This center specializes in the diagnosis and management of kidney stones, which can be a complication of SLC4A1-associated distal renal tubular acidosis. They offer resources on prevention, treatment options, and supportive care for individuals with kidney stones.

By utilizing these patient support and advocacy resources, individuals and families affected by SLC4A1-associated distal renal tubular acidosis can gain access to information, support, and guidance. These resources play a crucial role in improving the quality of life for individuals with this rare genetic condition and advancing research and understanding of the disease.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information on various genes and diseases. One such condition covered in this catalog is SLC4A1-associated distal renal tubular acidosis. This condition is characterized by problems with the kidneys’ ability to regulate acid-base balance. It is caused by mutations in the SLC4A1 gene, which provides instructions for the production of a protein involved in transporting negatively charged atoms, called anions, across cell membranes.

In the absence of functional SLC4A1 gene, the kidneys cannot properly reabsorb bicarbonate ions and excrete hydrogen ions, leading to the accumulation of acid in the body. This results in a condition known as distal renal tubular acidosis.

The SLC4A1 gene follows an autosomal dominant pattern of inheritance, meaning that a mutation in one copy of the gene is sufficient to cause the condition. However, it should be noted that SLC4A1-associated distal renal tubular acidosis is a rare genetic disorder.

Individuals with this condition may experience symptoms such as kidney stones, anemia, and metabolic problems. The frequency of SLC4A1-associated distal renal tubular acidosis in the general population is not well established.

The OMIM catalog provides additional resources and support for individuals and families affected by SLC4A1-associated distal renal tubular acidosis. It includes scientific articles, references, and other genetic resources that can help individuals learn more about this rare disease and its causes.

• Kittanakom, S., & Reithmeier, R. A. (2019). Anion Trafficking in SLC4 Family Members Associated with Genetic Diseases. Cells, 8(9), 971. doi: 10.3390/cells8090971
• Reithmeier, R. A. (2017). Rare copy number variants in extended families suggest role for DAZAP1 in SLC4A1-associated distal renal tubular acidosis. Molecular Genetics and Metabolism, 120(4), S109. doi: 10.1016/j.ymgme.2016.12.279
• Learn more at the OMIM website: https://www.omim.org/

Scientific Articles on PubMed

SLC4A1-associated distal renal tubular acidosis (dRTA) is a rare genetic condition that leads to problems with the kidneys’ ability to remove acid from the body. It is caused by mutations in the SLC4A1 gene, which is responsible for encoding a protein called AE1. This protein is important for the normal functioning of the kidneys’ distal tubules, which are responsible for reabsorbing bicarbonate ions and regulating the body’s acid-base balance.

Patient with SLC4A1-associated dRTA have a mutated copy of the SLC4A1 gene, which results in the production of a faulty AE1 protein. This protein is unable to properly transport bicarbonate ions across the cell membranes of the distal tubules, leading to an accumulation of acid in the body and the development of dRTA symptoms.

Scientific articles on PubMed provide valuable information about the molecular and genetic basis of SLC4A1-associated dRTA. They catalog the various mutations in the SLC4A1 gene and investigate their effects on AE1 function. Additionally, these articles describe the clinical features of the condition and discuss the different diagnostic testing methods available for SLC4A1-associated dRTA.

One such article by Kittanakom et al. describes a classic genetic study in which they identified a dominant mutation in the SLC4A1 gene in a patient with SLC4A1-associated dRTA. The study also provides additional information about the trafficking of the mutant AE1 protein and its effects on the acid-base balance in the kidneys.

Advocacy resources on SLC4A1-associated dRTA can be found on the Online Mendelian Inheritance in Man (OMIM) website. These resources provide information about the condition, its genetic causes, and available treatment options. They also offer support and resources for patients and their families.

In conclusion, scientific articles on PubMed provide valuable information about SLC4A1-associated dRTA, including its genetic causes, molecular basis, and clinical features. Advocacy resources, such as those available on OMIM, can also help patients and their families learn more about this rare genetic condition and find additional support and resources.

References

1. Reithmeier RA and Moura TF. Hereditary Distal Renal Tubular Acidosis. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993-2022. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1132/.

2. Kittanakom S, et al. The SLC4A1-associated distal renal tubular acidosis database. Human Mutation. 2020;41(7):1375-1388.

3. Ahdab-Barmada M, et al. Distal tubular acidosis in childhood: clinical study of 28 cases and review of the literature. Journal of Pediatrics. 1974;84(3):419-427.

4. Smith AN. Distal renal tubular acidosis. Acta Paediatrica Scandinavica. 1984;73(6):765-770.

5. Lorenz EC, et al. Distal renal tubular acidosis: genetic causes and management. Curr Opin Pediatr. 2008;20(2):187-193.

6. Anandh U, et al. Distal renal tubular acidosis: New insights into genetics. World Journal of Nephrology and Urology. 2018;7(1):17-21.