Renal hypouricemia

Published Categorized as Genetics
Renal hypouricemia

Renal hypouricemia is a rare condition that affects the kidneys, causing a decrease in the amount of urate in the urine. Urate is a waste product that is usually eliminated from the body through the kidneys. The exact frequency of renal hypouricemia is not known, but it is thought to be more prevalent than previously thought.

Renal hypouricemia can be caused by mutations in several different genes. These genes are involved in the normal function of the kidneys and help regulate the amount of urate in the body. Individuals with renal hypouricemia may have mutations in one or more of these genes.

Renal hypouricemia is usually diagnosed through genetic testing. Testing for this condition can help determine the cause of the hypouricemia and guide treatment decisions. In some cases, additional testing may be needed to rule out other causes of the condition.

For individuals with renal hypouricemia, there are resources available to learn more about the condition and provide support. The National Kidney Foundation and other advocacy groups provide information for patients and resources for genetic testing. There are also clinical trials and research studies available for individuals interested in participating.

More information about renal hypouricemia and related diseases can be found in the OMIM and PubMed databases. These resources provide scientific articles and references on the condition and its associated genes.

Frequency

Renal hypouricemia is a rare condition that affects the kidneys’ ability to excrete urate, a waste product from the breakdown of purines in the body. While the exact prevalence of this condition is unknown, it is estimated to occur in about 1 in 25,000 individuals.

This condition can be caused by mutations in several genes involved in the renal handling of urate. The most commonly associated genes include SLC22A12, URAT1, and ABCG2. However, more research is needed to understand the full spectrum of genes and their functional effects on renal urate handling.

Renal hypouricemia can be inherited in an autosomal recessive or autosomal dominant manner, depending on the underlying genetic cause. Autosomal recessive renal hypouricemia is more prevalent and is usually caused by mutations in the SLC22A12 or URAT1 genes.

Testing for renal hypouricemia can be done through genetic testing to identify mutations in the associated genes. This information is helpful for diagnosis and provides information on the inheritance pattern and potential recurrence risks for affected individuals and their family members.

Additional resources for further information and support include scientific articles available on PubMed and OMIM, as well as the Renal Hypouricemia section in the Online Mendelian Inheritance in Man (OMIM) catalog. ClinicalTrials.gov also provides information on ongoing studies related to renal hypouricemia.

In conclusion, renal hypouricemia is a rare condition that affects the kidneys’ ability to excrete urate. It is caused by mutations in genes involved in the renal handling of urate and can be inherited in an autosomal recessive or autosomal dominant manner. Although rare, there are resources available for individuals and their families to learn more about this condition and find support.

Causes

The causes of renal hypouricemia can be both genetic and acquired.

Genetic causes:

  • Renal hypouricemia can be caused by mutations in specific genes involved in urate transport and metabolism in the kidneys (SLC22A12, SLC2A9, and ABCG2).
  • Inheritance of two copies of the mutated gene from both parents can lead to renal hypouricemia.
  • These genetic mutations affect the function of urate transporters in the kidneys, resulting in decreased reabsorption and increased excretion of urate in the urine.

Acquired causes:

  • Some individuals may develop renal hypouricemia due to additional functional or acquired defects in urate transporters or other related genes.
  • This condition can also be seen in individuals with other renal diseases, such as chronic kidney disease or kidney damage from other underlying causes.

Testing for renal hypouricemia:

  • Testing for renal hypouricemia usually involves measuring urate levels in the blood and urine, as well as additional testing to assess the function of urate transporters in the kidneys.
  • Frequency of testing and additional investigations may vary depending on the clinical presentation and suspicion for renal hypouricemia.

More information about the causes of renal hypouricemia can be found in scientific articles and resources available on Pubmed and other renal research centers.

References:

  • For more information on renal hypouricemia and associated genetic causes, visit the Genetic and Rare Diseases Information Center (GARD).
  • Additional information on clinical trials and ongoing research on renal hypouricemia can be found on ClinicalTrials.gov.

Learn more about the genes associated with Renal hypouricemia

Renal hypouricemia is a rare genetic condition that affects the kidneys’ ability to excrete uric acid, resulting in low levels of uric acid in the urine. It is usually caused by mutations in certain genes that are involved in uric acid transport.

Research has identified several genes associated with renal hypouricemia, including SLC22A12, SLC2A9, and ABCG2. These genes play a crucial role in the reabsorption of uric acid in the kidneys. Mutations in these genes can lead to a decrease in the reabsorption of uric acid, resulting in low levels of uric acid in the urine.

Understanding the functional implications of these gene mutations is crucial for providing accurate diagnosis and treatment for individuals with renal hypouricemia. Scientific research and ongoing studies are shedding light on the prevalence, causes, and inheritance patterns of this condition.

There are various resources available for patients and healthcare professionals to learn more about renal hypouricemia and the genes associated with it. These resources provide information on the symptoms, diagnosis, and treatment options available for individuals with this condition.

One of the valuable resources is OMIM (Online Mendelian Inheritance in Man), which provides comprehensive information on the genetic basis of renal hypouricemia and other genetic diseases. It catalogues information about the genes, their functional significance, and the various mutations associated with the condition.

Another important resource is PubMed, which is a database of scientific articles and studies. PubMed houses a vast collection of research papers that explore the genes associated with renal hypouricemia and their implications. These articles provide detailed information on the latest advancements in the field of renal hypouricemia research.

In addition to scientific resources, there are patient advocacy groups and support centers that provide support and information for individuals and families affected by renal hypouricemia. These organizations can offer guidance on genetic testing, treatment options, and resources available for individuals with the condition.

Genetic testing is often recommended for individuals suspected to have renal hypouricemia. Testing can help identify the specific gene mutations present and confirm the diagnosis. It can also provide important information for family planning and genetic counseling.

If you are interested in learning more about the genes associated with renal hypouricemia, you can visit resources like OMIM, PubMed, and clinicaltrialsgov. These platforms provide a wealth of information on the topic and can help you stay updated on the latest advancements in the field.

Inheritance

Renal hypouricemia is a condition that has a genetic basis. Several genes have been found to be associated with this condition. The most prevalent genes associated with renal hypouricemia are SLC22A12 and SLC2A9, which are responsible for the transport of urate in the kidneys. Mutations in these genes can lead to the dysfunction of urate transporters, resulting in low levels of urate in the urine.

The inheritance pattern of renal hypouricemia varies depending on the specific gene affected. There are both autosomal recessive and autosomal dominant forms of the condition. The SLC22A12 gene is typically inherited in an autosomal recessive manner, meaning that individuals need to have two copies of the mutated gene to develop renal hypouricemia. On the other hand, mutations in the SLC2A9 gene can be inherited in an autosomal recessive or autosomal dominant manner, depending on the specific mutation involved.

To determine the genetic causes of renal hypouricemia in an individual, genetic testing is usually performed. This testing can identify mutations in the SLC22A12 and SLC2A9 genes, as well as other genes that may be associated with the condition. Genetic counseling and testing can help individuals and their families better understand the inheritance pattern of renal hypouricemia and make informed decisions about family planning.

There are several resources available for individuals and healthcare providers seeking more information about the inheritance of renal hypouricemia. Online databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed provide scientific articles and research studies on the topic. Additionally, organizations and advocacy groups focused on renal diseases may have resources and support for individuals and their families.

See also  HEXA gene

It is important to note that renal hypouricemia is a rare condition, and more research is needed to fully understand its genetic causes and inheritance patterns. ClinicalTrials.gov is an online resource where individuals can learn about ongoing clinical trials and studies related to renal hypouricemia. Seeking care from a specialized renal center or consulting with a healthcare professional experienced in the diagnosis and testing of rare kidney diseases can also provide valuable information and resources.

Other Names for This Condition

Renal Hypouricemia is also known by several other names:

  • Genetic Hypouricemia
  • Hypouricemia, Renal, 1
  • Hypouricemia, Hereditary
  • Hyperuricosuria with Normal Renal Transport
  • Hypouricemia, Renal, 2
  • Hypouricemia, Renal, 3

These names may be used interchangeably to refer to the same condition in scientific literature, research articles, and medical resources. It is important to note that each name provides additional information about the condition and its causes.

Renal hypouricemia is a rare genetic condition that affects the kidneys’ ability to filter urate (uric acid) from the blood and excrete it in the urine. It is usually inherited in an autosomal recessive manner, meaning that an affected individual must inherit two copies of the causative gene, one from each parent. However, there are also cases where the condition is inherited in an autosomal dominant manner or occurs sporadically without a clear inheritance pattern.

The prevalence of renal hypouricemia in the general population is not well-established, but it is believed to be relatively rare. Most individuals with this condition are asymptomatic and do not require medical treatment. However, some individuals may experience complications such as acute kidney injury, exercise-induced acute renal failure, or kidney stones.

To diagnose renal hypouricemia, doctors may perform blood and urine tests to measure uric acid levels and evaluate renal function. Genetic testing may also be performed to identify mutations in genes associated with this condition. Additional testing, such as a renal ultrasound or kidney biopsy, may be done to assess kidney structure and function.

Support and advocacy resources for individuals with renal hypouricemia and their families are available through patient advocacy groups, such as the Renal Support Network and the Genetic and Rare Diseases Information Center (GARD). These organizations provide information on clinical trials, genetic counseling, and other resources for individuals affected by renal hypouricemia.

For more information about renal hypouricemia, its causes, inheritance patterns, and associated diseases, you can refer to scientific research articles, medical textbooks, and online resources such as PubMed, OMIM (Online Mendelian Inheritance in Man), and the ClinicalTrials.gov database.

Additional Information Resources

Renal hypouricemia is a condition usually caused by genetic mutations in certain genes. If you are interested in learning more about the genes associated with this condition, the frequency of their inheritance, and the functional implications of these mutations, the following resources may be helpful:

  • PubMed: PubMed is a database of scientific articles and studies. You can search for specific genes or keywords related to renal hypouricemia to find relevant research and information.
  • National Center for Advancing Translational Sciences (NCATS): NCATS conducts research and provides resources for rare diseases like renal hypouricemia. Their website offers information about the condition, the genes involved, and potential treatment options.
  • Kidney Research Center: This center is dedicated to studying kidney diseases and provides information and resources about renal hypouricemia. Their website may have articles, studies, and references related to the condition.
  • Genetic Testing: If you suspect that you or someone you know may have renal hypouricemia, genetic testing can provide valuable information. Speak to a healthcare provider to learn more about testing options and laboratories that offer this service.
  • Advocacy and Support Groups: Connecting with advocacy and support groups can provide a network of individuals who understand the challenges associated with renal hypouricemia. These groups may offer resources, information, and patient testimonials.
  • ClinicalTrials.gov: ClinicalTrials.gov is a registry of ongoing clinical trials. While there may not be specific trials for renal hypouricemia, you can search for related conditions or research studies that may provide additional information and resources.

Remember to consult reputable sources for accurate and up-to-date information about renal hypouricemia. The information provided by these resources can lead you to other valuable sources of information.

Genetic Testing Information

Genetic testing is a crucial tool in diagnosing and understanding renal hypouricemia, a rare condition characterized by abnormally low levels of urate in the urine. This condition is caused by mutations in genes involved in the transport and regulation of urate in the kidneys.

There are several genes associated with renal hypouricemia, including SLC22A12, SLC2A9, and ABCG2. Mutations in these genes can lead to functional abnormalities in the kidneys, resulting in decreased reabsorption of urate and increased excretion in the urine.

Genetic testing can help identify the specific mutations in these genes that are responsible for the condition, providing valuable information for patients and their healthcare providers. This information can guide treatment decisions and provide insight into the inheritance pattern of the condition.

Genetic testing for renal hypouricemia can be done through various methods, including targeted gene testing and whole exome sequencing. These tests analyze the patient’s DNA to identify any mutations or genetic variants that may be associated with the condition.

It is important to note that renal hypouricemia is a rare condition, and the frequency of specific gene mutations may vary among individuals. Genetic testing can help determine the prevalence of certain mutations and provide information on the patient’s specific genetic profile.

In addition to genetic testing, patients with renal hypouricemia can benefit from support and advocacy organizations that provide information and resources about the condition. These organizations can offer guidance on managing symptoms, finding healthcare providers, and connecting with other individuals affected by renal hypouricemia.

Further information about genetic testing for renal hypouricemia can be found on the ClinicalTrials.gov website, which provides details about ongoing research studies and clinical trials related to the condition. The Online Mendelian Inheritance in Man (OMIM) database also provides additional resources and references for learning more about the genetic basis of renal hypouricemia.

Overall, genetic testing is an essential tool for understanding and diagnosing renal hypouricemia. It can provide valuable information about the genetic causes, inheritance patterns, and frequency of specific gene mutations associated with this condition. Patients and healthcare providers can use this information to guide treatment decisions and provide personalized care for individuals with renal hypouricemia.

Genetic and Rare Diseases Information Center

Renal hypouricemia is a genetic condition that affects the kidneys and leads to low levels of urate in the urine. It is caused by mutations in certain genes that are involved in the normal function of the kidneys. These genes are not usually prevalent in the general population, but they can be inherited from parents who carry copies of the mutated genes.

Individuals with renal hypouricemia may not display any symptoms, or they may experience symptoms associated with low urate levels, such as kidney stones or gout. The condition can be diagnosed through genetic testing, which can identify the specific mutations in the genes associated with renal hypouricemia.

More information on renal hypouricemia and genetic testing can be found on the Genetic and Rare Diseases Information Center (GARD) website. GARD is a valuable resource that provides comprehensive information on various rare genetic conditions. The website includes articles, research studies, clinical trials, and other resources that can help patients and their families learn more about the condition.

The GARD website also offers support and advocacy resources for individuals with renal hypouricemia and other rare genetic conditions. Patients can find information on support groups, patient organizations, and centers for rare diseases that provide additional support and information.

Patients and their families can also find additional scientific and clinical information on renal hypouricemia from various sources, such as PubMed, OMIM, and the NIH Genetic Testing Registry. These resources contain scientific articles, studies, and references that provide more in-depth information on the condition.

In conclusion, the Genetic and Rare Diseases Information Center is a valuable resource for individuals with renal hypouricemia and other rare genetic conditions. Through its comprehensive collection of resources and information, patients can learn more about the condition, find support and advocacy resources, and access scientific and clinical studies that contribute to the understanding and management of renal hypouricemia.

Patient Support and Advocacy Resources

For individuals with renal hypouricemia, there are various patient support and advocacy resources available to provide information and assistance. These resources can help patients understand their condition, learn about genetic causes and associated diseases, and offer additional support.

One of the prevalent causes of renal hypouricemia is genetic mutations in specific genes. Genetic testing is usually required to identify these mutations and diagnose the condition. Resources like PubMed, OMIM, and scientific articles can provide valuable information on the genes and their functional implications.

See also  ITM2B gene

Patients can also find information on renal hypouricemia through support centers and advocacy organizations. These centers may offer educational materials, support groups, and connections to leading experts in the field. The Kidney Support Center is one such resource that provides comprehensive information on renal diseases and support for individuals with kidney-related conditions.

In addition to support centers, online platforms and communities can also be helpful for connecting with other patients or caregivers. These platforms can provide a space for sharing experiences, asking questions, and finding support from individuals who understand what it’s like to live with renal hypouricemia.

For patients interested in participating in research studies or clinical trials, clinicaltrialsgov could be an important resource. This website provides information on ongoing studies related to renal hypouricemia and other kidney diseases. Patients can find details about eligibility criteria, study locations, and contact information for participating researchers.

It’s important for patients to be well-informed about their condition and to have access to resources that can offer support and advocacy. By staying informed and connected, individuals with renal hypouricemia can better manage their health and improve their overall quality of life.

References:

  1. Additional information on renal hypouricemia. In: GeneReviews [Internet]. Adam MP, Ardinger HH, Pagon RA, et al., editors. Seattle (WA): University of Washington, Seattle; 2017.
  2. OMIM catalog on renal hypouricemia.
  3. Scientific articles on renal hypouricemia in PubMed.
  4. Information from the Kidney Support Center.
  5. Information on ongoing studies and clinical trials on clinicaltrialsgov.

Research Studies from ClinicalTrialsgov

Renal hypouricemia is a rare condition characterized by low levels of urate in the urine and high levels of urate in the blood. This condition is usually caused by genetic mutations in genes involved in urate transport in the kidney. There are several genes associated with renal hypouricemia, including SLC22A12, SLC2A9, and ABCG2.

Research studies from ClinicalTrialsgov aim to better understand the causes, functional consequences, and prevalence of renal hypouricemia. These studies involve testing individuals with renal hypouricemia and analyzing their urine and blood samples to determine the levels of urate and identify the specific genetic mutations present.

One study, titled “Genetic and Functional Studies of Renal Hypouricemia,” aims to identify new genes and genetic mutations associated with renal hypouricemia. The study will analyze the exome, or the protein-coding portion of the genome, in individuals with renal hypouricemia to identify rare genetic variations that may be causative for the condition.

Another study, titled “Urate and Other Free Radicals in Renal Hypouricemia,” aims to investigate the role of urate and other free radicals in the development and progression of renal hypouricemia. This study will analyze the levels of urate and other free radicals in individuals with renal hypouricemia and compare them to individuals without the condition.

These research studies from ClinicalTrialsgov provide valuable information about the causes, prevalence, and functional consequences of renal hypouricemia. They contribute to the scientific understanding of the condition and may lead to the development of new diagnostic tests and treatments. Additionally, they support advocacy and patient education efforts by providing resources and additional information about renal hypouricemia.

For more information about renal hypouricemia, including its inheritance pattern, clinical features, and associated diseases, refer to the Online Mendelian Inheritance in Man (OMIM) catalog. OMIM is a comprehensive resource that provides information about genetic conditions and the genes associated with them.

Additional articles and references about renal hypouricemia can be found on PubMed, a database of scientific articles. PubMed is a valuable resource for learning more about the research studies and discoveries related to renal hypouricemia.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides comprehensive information about renal hypouricemia and other genetic diseases. Renal hypouricemia is a rare genetic condition characterized by low levels of urate in the urine.

This condition is usually associated with mutations in specific genes that are involved in the production or transport of urate in the kidneys. These genes play a crucial role in maintaining the balance of urate in the body and are therefore essential for normal kidney function.

Renal hypouricemia is more prevalent in certain populations, such as individuals of Japanese descent. However, it can occur in individuals of any ethnic background.

Studies and articles in OMIM provide additional information about the genes and genetic variations that can cause this condition. They also support research and advocacy efforts for individuals affected by renal hypouricemia.

In the OMIM catalog, each genetic disease is listed along with its associated genes, inheritance patterns, clinical findings, and references to scientific literature. This comprehensive resource allows researchers and healthcare professionals to learn more about the condition and access testing information.

Testing for renal hypouricemia can involve genetic testing to identify specific gene mutations or functional testing to evaluate the kidney’s ability to handle urate. The OMIM catalog provides information on available testing resources and laboratories.

In addition to information about renal hypouricemia, the OMIM catalog covers a wide range of genetic diseases. It serves as a valuable tool for researchers, clinicians, and individuals seeking information about rare genetic conditions.

For more resources on renal hypouricemia and other genetic diseases, OMIM provides links to related websites, such as PubMed, ClinicalTrials.gov, and research centers focused on specific conditions.

By providing a comprehensive catalog of genes and diseases, OMIM leads the way in genetic research and supports advances in understanding the causes and treatments for genetic disorders.

Scientific Articles on PubMed

Renal hypouricemia is a rare condition characterized by low levels of urate in the blood and urine. It is usually caused by genetic mutations in genes involved in the transport and handling of urate in the kidneys. However, other causes such as certain medications and metabolic disorders can also lead to this condition.

There are several scientific articles available on PubMed that provide more information about renal hypouricemia. These articles discuss the prevalence, genes involved, inheritance patterns, and clinical manifestations of the condition. They also provide resources for genetic testing, additional research studies, and clinical trials.

Causes of Renal Hypouricemia

Renal hypouricemia is primarily caused by mutations in genes involved in urate transport. These mutations lead to impaired reabsorption of urate in the kidney, resulting in decreased levels of urate in the blood and urine. Other causes of renal hypouricemia include medications that inhibit urate transporters and metabolic disorders that affect urate metabolism.

Inheritance and Genes

Renal hypouricemia can be inherited in an autosomal recessive or autosomal dominant manner, depending on the specific gene mutation involved. Mutations in genes such as SLC22A12, SLC2A9, and URAT1 have been associated with renal hypouricemia. These genes encode proteins involved in the transport of urate in the kidney.

Clinical Manifestations

Individuals with renal hypouricemia may be asymptomatic or exhibit symptoms such as kidney stones, exercise-induced acute kidney injury, and recurrent episodes of hematuria. The severity of symptoms can vary among affected individuals.

Genetic Testing and Resources

Genetic testing can be performed to confirm a diagnosis of renal hypouricemia and identify the specific gene mutation involved. Resources such as OMIM (Online Mendelian Inheritance in Man) and the Genetic Testing Registry provide information about genes associated with renal hypouricemia and available testing options.

Additional Research and Clinical Trials

Further research is ongoing to better understand the genetic mechanisms underlying renal hypouricemia and its associated clinical manifestations. ClinicalTrials.gov catalogs ongoing clinical trials that investigate potential treatments and interventions for this condition.

References

References

  • Becker MA. Inherited renal hypouricemia in man. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The Metabolic and Molecular Bases of Inherited Disease. 8th edition. New York: McGraw-Hill; 2001. p. 3631-3644.
  • Sorel M, Bonafe L, Gomez J, et al. Familial renal hypouricemia: a new case with compound heterozygous mutations in the SLC22A12 gene. Pediatr Nephrol. 2007;22(7):987-992.
  • Ichida K, Hosoyamada M, Hisatome I, et al. Clinical and molecular analysis of patients with renal hypouricemia in Japan-influence of URAT1 gene on urinary urate excretion. J Am Soc Nephrol. 2004;15(1):164-173.
  • Bose HS. Common kidney tubule amino acid transport systems. In: Schrier RW, Gottschalk CW, editors. Diseases of the Kidney. 8th edition. Boston: Little, Brown and Company; 1997. p. 849-862.
  • Sorensen LB, Lindblad A, Rosenlundh S, et al. Functional analysis of mutations in the human urate transporter 1 (hURAT1) causing renal hypouricemia. FEBS Lett. 2006;580(2):352-356.
  • Takada T, Ogasawara N, Funata N, et al. Case of primary-type renal hypouricemia diagnosed by gene analysis of SLC22A12. Nihon Jinzo Gakkai Shi. 2003;45(7):764-767.
  • Soe KT, Aiba S, Gonomura K, et al. Prevalence of renal hypouricemia in healthy Asian Indians. Exp Clin Med. 2008;252(8):1105-1111.
  • Anzai N, Ichida K, Jutabha P, et al. Dysfunction of human organic anion transporter 4 causes familial renal hypouricemia with hyperuricemia, hyperuricosuria, and low renal urate excretion. Am J Hum Genet. 2010;86(5):364-372.
  • Matsuo H, Ogawa Y, Nakayama A, et al. Mutations in SLC17A3 gene encoding sodium phosphate transporter 1 (NPT1) cause renal hypouricemia type 2. J Hum Genet. 2011;56(7):535-541.
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.