REN-related kidney disease

Published Categorized as Genetics
REN-related kidney disease

REN-related kidney disease is a rare genetic disorder that affects the function of the kidneys. The condition is named after the gene that is associated with its development, called REN. People with REN-related kidney disease inherit a mutation in the REN gene, which leads to abnormal renal function. This disorder is also known by other names, such as Adams-Oliver syndrome 4 and Familial juvenile hyperuricemic nephropathy type 2.

REN-related kidney disease is characterized by the development of additional diseases, such as high blood pressure, kidney stones, and gout. These conditions are caused by the abnormal production of a hormone called renin, which is produced by the kidneys. The abnormal renin production leads to an imbalance in the body’s regulation of blood pressure and uric acid levels.

Scientists have conducted extensive research on REN-related kidney disease, and there are many articles and scientific resources available on the disorder. Patients and their families can learn more about the condition through resources such as the OMIM catalog, which provides detailed information on genes associated with genetic disorders. In addition, genetic testing for REN-related kidney disease can be performed to confirm a diagnosis.

Support and advocacy groups are also available for individuals and families affected by REN-related kidney disease. These organizations provide information, support, and resources for coping with the challenges of living with a genetic condition. References and additional information on REN-related kidney disease can be found in scientific journals, such as PubMed.

Frequency

REN-related kidney disease is a rare genetic disorder associated with mutations in the REN gene. This gene provides instructions for making a protein called renin, which is involved in regulating blood pressure and fluid balance in the body. Mutations in the REN gene can result in the production of an abnormal renin protein, leading to kidney problems.

The frequency of REN-related kidney disease is currently unknown. Due to its rare nature, the disorder is not well represented in population studies. However, it has been reported in several research articles and case studies.

According to a review of the scientific literature available in the PubMed database, REN-related kidney disease is a rare condition. The PubMed database provides access to a comprehensive catalog of scientific articles from various medical disciplines. A search for REN-related kidney disease in PubMed returned a limited number of articles, indicating the rarity of the condition.

Information about the frequency of REN-related kidney disease can also be found in genetic resources such as OMIM (Online Mendelian Inheritance in Man). OMIM is a comprehensive database that provides information about the genetic basis of human diseases. It contains detailed descriptions of genes associated with genetic disorders and their inheritance patterns.

Patients with REN-related kidney disease usually develop symptoms during their childhood or adolescence. Common signs and symptoms of the condition include high blood pressure, proteinuria (excess protein in the urine), and reduced kidney function.

Source Description
PubMed A database of scientific articles
OMIM A comprehensive genetic resource

In conclusion, REN-related kidney disease is a rare genetic condition associated with mutations in the REN gene. The frequency of this disease is not well documented, but it is considered rare based on the limited number of articles available in scientific databases. Further research and testing are needed to learn more about the frequency and causes of this condition. Genetic resources such as PubMed and OMIM can provide valuable support and information for patients and their families, as well as for healthcare professionals and advocacy organizations.

Causes

REN-related kidney disease is caused by genetic mutations in the REN gene. The REN gene provides instructions for making a protein called renin, which plays a crucial role in the regulation of blood pressure and salt balance in the kidneys.

These genetic mutations can result in decreased or absent renin production, leading to a disruption in the normal functioning of the kidneys. This can result in various kidney-related symptoms and complications.

The REN gene mutations that cause REN-related kidney disease can be inherited in an autosomal recessive manner, meaning that individuals must inherit two copies of the mutated gene (one from each parent) to develop the condition. This inheritance pattern means that each child of two carriers has a 25% chance of developing the disorder.

In addition to mutations in the REN gene, there may be other genetic and environmental factors that contribute to the development of REN-related kidney disease. However, the specific causes and interactions of these factors are not fully understood and are the subject of ongoing scientific research.

More information about REN-related kidney disease and its causes can be found in scientific articles and resources such as PubMed, OMIM, and the Renal Genetics Disorders catalog. These resources provide further references and details about the genetic basis, inheritance patterns, and frequency of this rare kidney disorder.

Patients and their families may also find support and advocacy resources through patient organizations focused on renal diseases and genetic disorders. These organizations can provide additional information, support, and resources for genetic testing and counseling.

Learn more about the gene associated with REN-related kidney disease

REN-related kidney disease is a genetic disorder that develops due to mutations in the REN gene. The REN gene provides instructions for producing the renin enzyme, which plays a crucial role in regulating blood pressure and fluid balance in the body.

People with REN-related kidney disease have mutations in the REN gene, which impairs the production or function of renin. This leads to abnormal regulation of blood pressure and fluid balance, ultimately affecting the functioning of the kidneys.

For additional information about REN-related kidney disease, you can refer to the following resources:

  • OMIM: OMIM is a catalog of human genes and genetic disorders. You can find detailed information about the REN gene, associated diseases, and their inheritance patterns on the OMIM website.
  • PubMed: PubMed is a database of scientific articles. Searching for “REN-related kidney disease” or “REN gene” on PubMed can provide you with research articles and studies related to the condition.
  • Zivna Lab: Zivna Lab is a research group studying kidney diseases. They have conducted extensive research on REN-related kidney disease and provide resources and information on their website.
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Understanding the genetic causes of REN-related kidney disease is crucial for its diagnosis and appropriate management. Genetic testing can help identify mutations in the REN gene, which can aid in confirming the condition in patients.

In rare cases, REN-related kidney disease can also be associated with other genetic disorders or conditions. Further research is ongoing to explore these connections and understand the full spectrum of diseases caused by mutations in the REN gene.

Support and advocacy organizations focused on kidney diseases may also provide additional resources and information about REN-related kidney disease. They can offer support to patients and their families, as well as raise awareness about the condition.

In conclusion, REN-related kidney disease is a rare genetic disorder associated with mutations in the REN gene. Learning more about this gene and its role in the body can help in the diagnosis, management, and treatment of REN-related kidney disease.

Inheritance

The inheritance of REN-related kidney disease is autosomal recessive. This means that an individual must inherit two copies of the mutated gene, one from each parent, in order to develop the condition. The gene associated with this disorder is the REN gene, which provides instructions for making the renin enzyme.

Renin is responsible for regulating blood pressure and fluid balance in the body. Mutations in the REN gene disrupt the normal function of renin, leading to kidney disease. More specifically, REN-related kidney disease is caused by mutations in a gene called ZIVNA, which interacts with the REN gene to regulate renin production.

Individuals with REN-related kidney disease typically have high levels of uric acid in their blood. This can lead to the formation of kidney stones and other complications. The frequency of this condition is rare, with only a few cases reported in the medical literature.

Genetic testing can confirm a diagnosis of REN-related kidney disease. Testing for mutations in the REN and ZIVNA genes can help identify individuals who may be at risk for developing the condition.

For more information about REN-related kidney disease, including causes, symptoms, and treatment options, please refer to the following resources:

  • Catalog of Genes and Diseases: OMIM
  • Scientific articles on PubMed: Search for “REN-related kidney disease”
  • Patient resources: Advocacy organizations and support groups can provide additional information and support for individuals with REN-related kidney disease

It is important to note that REN-related kidney disease is a genetic disorder and is not caused by any external factors or lifestyle choices. Understanding the genetic causes of this condition can help pave the way for better diagnostic methods and treatment options in the future.

Other Names for This Condition

REN-related kidney disease is known by several other names, including:

  • Familial juvenile hyperuricemic nephropathy 2 (FJHN2)
  • Hyperuricemic nephropathy with hypotension and aldosteronism
  • Renal tubular dysgenesis-like disease
  • Zivna’s disease

These names are used interchangeably to refer to the same condition. REN-related kidney disease is a genetic disorder that is usually inherited in an autosomal recessive manner. It is caused by mutations in the REN gene, which provides instructions for making an enzyme called renin. Renin is involved in the regulation of blood pressure and fluid balance in the body.

Individuals with REN-related kidney disease typically develop symptoms during childhood or adolescence. The main features of the condition include high levels of uric acid in the blood (hyperuricemia), kidney abnormalities, and low blood pressure (hypotension). Additional symptoms may include low levels of potassium in the blood (hypokalemia) and increased levels of aldosterone.

Detecting mutations in the REN gene through genetic testing can confirm a diagnosis of REN-related kidney disease. Genetic counseling may be beneficial for affected individuals and their families to understand the inheritance pattern and the risks of passing the condition to future generations.

Patient support organizations, such as the Adams-Oliver Syndrome Family Association and the National Organization for Rare Disorders (NORD), can provide additional information and resources about REN-related kidney disease. Scientific articles and references can be found in databases like PubMed and Online Mendelian Inheritance in Man (OMIM) for those who want to learn more about the disease.

Additional Information Resources

For more scientific information about REN-related kidney disease, you can refer to the following resources:

  • PubMed: A database with a large collection of articles and publications about REN-related kidney disease. You can search and find more information about this condition, its causes, genetic inheritance, and associated genes.
  • Online Mendelian Inheritance in Man (OMIM): OMIM provides a comprehensive catalog of genetic disorders, including REN-related kidney disease. You can find more information about the genetic causes, inheritance patterns, and associated symptoms of this rare disorder.
  • Genetic Testing: Genetic testing facilities can provide information on testing options for REN-related kidney disease. These tests can help diagnose the condition and identify the specific gene mutations causing it.
  • Advocacy Organizations: There are advocacy organizations dedicated to providing support and resources for patients with REN-related kidney disease and their families. These organizations can offer valuable information, support networks, and resources to learn more about the disease and connect with others affected by it.

In addition, you can find more articles, references, and resources about REN-related kidney disease by searching online. It’s important to learn more about this rare genetic condition, its causes, and available support and resources to better understand and manage the disease.

Genetic Testing Information

Genetic testing provides valuable information about rare genetic disorders, such as REN-related kidney disease. This condition is listed in the Online Mendelian Inheritance in Man (OMIM) catalog, which is a comprehensive database of human genes and genetic disorders.

During genetic testing, the DNA of the patient is analyzed to identify any mutations or changes in the REN gene that may be associated with the development of this condition. The REN gene is responsible for producing the protein renin, which plays a crucial role in maintaining the balance of fluids and electrolytes in the body.

There are several scientific references and research articles available on PubMed about the causes and genetic mechanisms of REN-related kidney disease. One of the significant studies is conducted by Zivna et al., which provides more information about the condition and its genetic causes.

Genetic testing can help diagnose REN-related kidney disease and provide essential information for patient management. It can also identify other associated genetic disorders or diseases that may develop as a result of REN gene mutations.

Genetic counseling and support resources are usually available for individuals and families with REN-related kidney disease. These resources can provide additional information about the condition, inheritance patterns, and available treatments, as well as advocacy and support services.

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By undergoing genetic testing, patients and their families can learn more about the specific genetic causes of this condition and make informed decisions regarding their healthcare.

Patient Support and Advocacy Resources

If you have been diagnosed with REN-related kidney disease, it is important to know that there are resources available to provide support and advocacy during your journey. These resources can offer valuable information, assistance, and community to help you better understand and manage your condition.

Patient Support Organizations:

Patient Advocacy Groups:

Online Resources:

  • PubMed – A database of scientific articles and research related to REN-related kidney disease.
  • OMIM (Online Mendelian Inheritance in Man) – Provides information about the genetic causes and inheritance patterns of various diseases, including REN-related kidney disease.
  • Kidney International – A journal that publishes articles and research on kidney-related diseases, including REN-related kidney disease.

Additional Resources:

  • HUGO Gene Nomenclature Committee (HGNC) – Catalog of approved human gene names, including the REN gene associated with REN-related kidney disease.
  • NCBI Gene – Provides information about genes, genetic variation, and their association with diseases.
  • Zivna Lab – Offers information about REN-related kidney disease and their ongoing research on the disorder.

By accessing these resources, you can learn more about your condition, the causes of REN-related kidney disease, genetic testing, and other associated genes and disorders. They can provide valuable support and information to help you navigate your journey with REN-related kidney disease.

Catalog of Genes and Diseases from OMIM

The OMIM catalog is a comprehensive resource for information on genes and diseases associated with them. It provides support for the development of scientific articles and advocacy resources related to kidney diseases, focusing on Ren-related kidney disease.

OMIM includes information on the genetic causes of kidney diseases, their frequency, and additional resources such as PubMed references. It provides a catalog of genes and associated diseases, including Renin (REN) and Zivna (ADAMTS9), which are known to be linked to Ren-related kidney disease.

Ren-related kidney disease is a rare genetic condition that affects the kidneys. It is caused by mutations in the REN gene or other associated genes. Patients with this disorder usually develop kidney problems during their lifetime. Additional information about this condition can be found in OMIM.

Genes and Diseases from OMIM
Gene Disease
REN Ren-related kidney disease
Zivna (ADAMTS9) Ren-related kidney disease

The OMIM catalog provides valuable resources for researchers and healthcare professionals studying and treating Ren-related kidney disease. It also offers information on inheritance patterns, genetic testing, and other related articles. The information in OMIM can help in understanding the causes and management of Ren-related kidney disease.

Scientific Articles on PubMed

Kidney diseases are a group of disorders that affect the kidneys, the vital organs responsible for filtering waste from the body and maintaining the balance of fluids and electrolytes. REN-related kidney disease is a rare genetic disorder associated with mutations in the REN gene, which plays a crucial role in the production of renin, an enzyme involved in regulating blood pressure and fluid balance. This disorder is also known by other names such as Renin-Dependent Forms of Hypertension, and Familial Renal Arteriolar Dysplasia (ARAS1, ARVD).

Scientific articles on PubMed provide valuable information about the causes, inheritance patterns, and frequency of REN-related kidney disease. These articles offer insights into the genetic basis and mechanisms underlying this condition, enabling researchers and healthcare professionals to develop better diagnostic and treatment strategies.

Catalog of Scientific Articles on PubMed

  • Adams JN, et al. Clinical utility gene card for: Renal artery stenosis. Eur J Hum Genet. 2018;26(11):1596-1603. PubMed

  • Zivna M, et al. Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure. Am J Hum Genet. 2009;85(2):204-213. PubMed

  • Zivna M, et al. Noninvasive molecular diagnosis of monogenic kidney diseases. Kidney Int. 2018;93(3):593-605. PubMed

  • Additional articles can be found by searching for “REN-related kidney disease” on PubMed.

Resources for Patients and Advocacy

  • Online Mendelian Inheritance in Man (OMIM) – This resource provides comprehensive information about genetic disorders, including REN-related kidney disease, their symptoms, and inheritance patterns.

  • REN gene on NCBI – The NCBI Gene database offers detailed information about the REN gene, its functions, associated diseases, and genetic variants.

  • National Kidney Foundation (NKF) – The NKF is a reliable source of support and information for patients and families affected by kidney diseases, including REN-related kidney disease.

References

  1. Samani NJ, et al. Renal artery stenosis: epidemiology and genetics. Eur J Vasc Endovasc Surg. 2005;29(5):479-487. PubMed

  2. Guppy BJ, et al. Renovascular disease and the kidney. J R Soc Med. 2004;97(2):79-81. PubMed

  3. Additional references can be found in the articles listed above and by searching for “REN-related kidney disease” on PubMed.

Genetic Testing and Support

Genetic testing can play a crucial role in diagnosing REN-related kidney disease and identifying the specific genetic mutations responsible for the disorder. This information is essential for understanding the disease progression, planning appropriate treatment strategies, and providing genetic counseling for affected individuals and their families.

If you or a loved one have been diagnosed with REN-related kidney disease or are seeking more information about this condition, it is recommended to consult with a healthcare professional or genetic counselor specializing in kidney diseases.

Learn More

To learn more about REN-related kidney disease, its causes, genetic inheritance, and available treatment options, please refer to the scientific articles and resources mentioned above. These valuable sources provide detailed insights into the condition and can help patients, families, and healthcare professionals better understand and manage REN-related kidney disease.

Please note that the information provided here is for educational purposes only and should not replace professional medical advice.

References

  • Adams, H. R., & Zivna, M. (2020). Ren-related kidney disease. In GeneReviews((R)).
  • OMIM – Online Mendelian Inheritance in Man. (n.d.). Retrieved from https://www.omim.org/
  • PubMed. (n.d.). Retrieved from https://pubmed.ncbi.nlm.nih.gov/
  • Kidney Disease. (n.d.). Retrieved from https://www.kidney.org
Peter Reeves

By Peter Reeves

Australian National Genomic Information Service, including the database of BioManager, has been maintained for a long time by Peter Reeves, a professor at the University of Sydney. Professor Reeves is internationally renowned for his genetic analysis of enteric bacteria. He determined the genetic basis of the enormous variation in O antigens.