The CLCNKB gene is an important gene associated with various kidney-related disorders. It plays a crucial role in the regulation of kidney function, specifically in the reabsorption of chloride ions. Changes or mutations in this gene can lead to the development of certain diseases and conditions that affect the kidney’s ability to properly filter and reabsorb substances from urine. This gene is also known by other names such as CLC-Kb and CLC-K2.

One of the most well-known conditions related to the CLCNKB gene is Bartter syndrome, which is a genetic disorder characterized by the wasting of chloride, sodium, and potassium in the urine. Another related condition is Gitelman syndrome, which affects the chloride and sodium reabsorption in the kidneys. Both of these syndromes can cause a range of symptoms and complications that affect a person’s health.

Scientific articles, databases, and genetic testing resources are available to study and understand the CLCNKB gene and its associated disorders. On online databases such as PubMed and OMIM, you can find a vast collection of articles and citations related to this gene. Genetic testing can also be done to identify mutations or changes in the CLCNKB gene that may be responsible for certain kidney disorders.

This gene is part of a family of genes called CLCN, which encode for chloride ion channels involved in the transport of ions across cell membranes. The CLCNKB gene specifically encodes for the CLC-Kb protein, which is primarily expressed in the kidney. It is crucial for the proper function of the kidney and the regulation of electrolyte balance.

In summary, the CLCNKB gene is an important gene related to kidney function and the reabsorption of chloride ions. Mutations in this gene can lead to various kidney disorders, including Bartter syndrome and Gitelman syndrome. Genetic testing and scientific studies provide valuable information on the gene and its associated conditions, helping to improve our understanding and management of these disorders.

Health Conditions Related to Genetic Changes

Genetic changes in the CLCNKB gene have been found to be associated with several health conditions. The CLCNKB gene provides instructions for making a protein that is important for the normal function of kidney cells. This protein is involved in the reabsorption of chloride, a process that helps maintain the balance of salt and water in the body.

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One of the most common health conditions related to genetic changes in the CLCNKB gene is Gitelman syndrome. Gitelman syndrome is a kidney disorder that is characterized by low levels of potassium and magnesium in the blood, increased excretion of potassium in the urine, and a tendency to develop an alkaline urine. Individuals with Gitelman syndrome may experience symptoms such as muscle cramps, weakness, and fatigue.

To identify genetic changes in the CLCNKB gene, various tests can be performed. These tests may include urine tests to measure the levels of certain substances, such as chloride, as well as genetic testing to look for specific changes in the CLCNKB gene. The results of these tests can provide valuable information for diagnosis and treatment.

Several databases and resources are available for individuals and healthcare professionals seeking information on health conditions related to genetic changes in the CLCNKB gene. These resources include scientific articles, databases such as OMIM (Online Mendelian Inheritance in Man), and the CLCNKB Gene Catalog. Additionally, references and citations from PubMed can provide further information and research on these conditions.

It is important to note that genetic changes in the CLCNKB gene are not the only genetic cause of these health conditions. Other genes, such as CLC-Ka, have also been associated with related disorders. Further research is needed to fully understand the genetic and molecular mechanisms underlying these conditions.

In conclusion, genetic changes in the CLCNKB gene are associated with a range of health conditions, including Gitelman syndrome. Testing for genetic changes in this gene can provide valuable information for diagnosis, management, and treatment of these conditions. Resources such as scientific databases, articles, and the CLCNKB Gene Catalog can help professionals and individuals access information and support related to these genetic changes.

Bartter Syndrome

Bartter syndrome is a group of rare genetic disorders characterized by defects in the kidneys’ ability to reabsorb salt and water. These defects result in excessive salt and water loss in the urine, leading to electrolyte imbalances and an increased risk of dehydration.

Bartter syndrome is named after the American pediatrician Frederic Bartter, who first described the condition in 1962. There are several types of Bartter syndrome, classified based on the specific genes involved:

• Bartter syndrome type 1 (OMIM 601678) is caused by mutations in the SLC12A1 gene.
• Bartter syndrome type 2 (OMIM 241200) is caused by mutations in the RNLS gene.
• Bartter syndrome type 3 (OMIM 607364) is caused by mutations in the CLCNKB gene.
• Bartter syndrome type 4A (OMIM 602522) is caused by mutations in the BSCR1 gene.
• Bartter syndrome type 4B (OMIM 613090) is caused by mutations in the CLCNKA gene.

Bartter syndrome is very rare, with an estimated prevalence of 1 in 1 million people. It is more common in certain populations, such as individuals of Ashkenazi Jewish descent.

Symptoms of Bartter syndrome typically appear in infancy or early childhood and may include failure to thrive, growth delays, muscle weakness, fatigue, and episodes of dehydration. Children with Bartter syndrome may also experience frequent urination, thirst, and excessive salt cravings.

The diagnosis of Bartter syndrome involves a combination of clinical evaluation, blood tests, urine tests, and genetic testing. A high level of chloride in the urine and low levels of potassium in the blood are characteristic findings in individuals with Bartter syndrome.

Treatment for Bartter syndrome focuses on managing symptoms and preventing complications. This may include oral potassium supplements, medications to reduce urine output, and a low-sodium, high-potassium diet.

Additional resources for information on Bartter syndrome include scientific databases, such as PubMed and OMIM, as well as genetic testing registries and health organizations specializing in kidney diseases. It is important for individuals with Bartter syndrome and their families to work closely with healthcare professionals to manage the condition effectively.

Gitelman syndrome

Gitelman syndrome is a rare genetic disorder that affects the kidney’s ability to reabsorb chloride. It is caused by mutations in the CLCNKB gene, which codes for a chloride channel in the kidneys.

This syndrome is a type of renal tubular disorder, characterized by excessive urine wasting and low blood potassium levels (hypokalemia). Gitelman syndrome shares some similarities with another genetic disorder called Bartter syndrome, but the two conditions have different underlying genetic changes.

Gitelman syndrome is named after Dr. Hillel Gitelman, who first described the syndrome in a scientific article published in 1966. Since then, additional research has been conducted to understand the genetics and pathophysiology of this condition.

To diagnose Gitelman syndrome, various tests can be performed, including blood tests to measure electrolyte levels, urine tests to evaluate kidney function, and genetic testing to identify mutations in the CLCNKB gene. Genetic testing can pinpoint specific changes or variants in the gene that are associated with the syndrome.

There are several resources available for people interested in learning more about Gitelman syndrome. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on the genetic causes and clinical features of this condition. The Genetic and Rare Diseases Information Center (GARD) also offers information and resources for people affected by Gitelman syndrome.

References to scientific articles and studies related to Gitelman syndrome can be found in databases like PubMed and the National Registry of Genetic Conditions (GeneReviews). These articles provide valuable information on the latest scientific findings and advances in testing and treatment options for this syndrome.

In conclusion, Gitelman syndrome is a rare genetic disorder characterized by kidney dysfunction and electrolyte imbalances. The CLCNKB gene is the primary gene associated with this condition, and scientific research continues to uncover more information about the pathophysiology and treatment options for affected individuals.

Other disorders

CLCNKB gene mutations can cause other disorders besides Bartter syndrome. Some of these disorders include the Gitelman syndrome and the Jeck variant of Bartter syndrome.

In the Gitelman syndrome, there are changes in the CLCNKB gene that result in the reabsorb of chloride in the kidney. This leads to wasting of chloride in the urine and can cause symptoms such as low blood pressure and muscle weakness.

The Jeck variant of Bartter syndrome is a milder form of the syndrome. It is characterized by sensorineural hearing loss and can be caused by mutations in either the CLCNKA or the CLCNKB gene.

To diagnose these disorders, genetic testing can be performed to look for mutations in the CLCNKB gene. This can help confirm a diagnosis and guide treatment options.

For more information on these conditions and related genes, additional resources can be found in scientific articles, databases, and health registries. Some of the resources include OMIM (Online Mendelian Inheritance in Man), Nephrol Dial Transplant, and the CLCNKB gene catalog.

Other Names for This Gene

The CLCNKB gene, also known as the ClC-Kb gene, has various other names in different databases and scientific resources. Some of the common alternative names for this gene are:

• CLCKB
• Chloride Channel Kb
• ClC-K2
• ClC-K2a
• ClC-K2b
• ClC-K2d
• CLCN2
• ClC-Ka
• DKFZp686I06011
• hClC-Kb

The CLCNKB gene encodes a protein that is involved in chloride transport in the kidney. Mutations in this gene can lead to various kidney disorders, such as Bartter syndrome and Gitelman syndrome. Testing for mutations in the CLCNKB gene can be done through genetic tests and urine tests. Information on the CLCNKB gene can be found in various databases, such as OMIM, PubMed, and the GeneTests Clinical Gene Repository.

References:

1. Jeck N, Konrad M, Peters M, Weber S, Bonzel KE, Seyberth HW, et al. Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome. J Am Soc Nephrol. 2004;15(7):1648-55. PMID: 15213279.
2. Gitelman HJ, Graham JB, Welt LG. A new familial disorder characterized by hypokalemia and hypomagnesemia. Trans Assoc Am Physicians. 1966;79:221-35. PMID: 4966284.
3. CLCNKB. In: Genetic Testing Registry (GTR) [Internet]. Bethesda (MD): National Library of Medicine (US), National Center for Biotechnology Information; 2014 [cited 2021 Jan 11]. Available from: https://www.ncbi.nlm.nih.gov/gtr/tests/63194/overview/

Additional information about this gene and related conditions can be found in scientific articles and resources related to kidney disorders, chloride channels, and genetic testing.

Additional Information Resources

For additional information on the CLCNKB gene and related disorders, the following resources may be helpful:

• Genetic Testing: Genetic testing can be done to identify changes in the CLCNKB gene and confirm a diagnosis of Bartter syndrome or CLCKB-related disorders. Your healthcare provider or a genetics professional can provide more information on genetic testing options.
• Scientific Articles: Numerous scientific articles have been published on the CLCNKB gene, Bartter syndrome, and related conditions. These articles can be found in scientific databases such as PubMed, and they provide in-depth information on the function of CLCNKB and its role in kidney ion transport.
• Online Databases: Online databases such as OMIM (Online Mendelian Inheritance in Man) and the Genetic and Rare Diseases (GARD) Information Center provide comprehensive information on genetic conditions, including Bartter syndrome and related disorders. These databases have curated information on symptoms, gene variants, inheritance patterns, and other relevant details.
• Patient Support Groups: Support groups and patient advocacy organizations can offer valuable resources and support for individuals and families affected by Bartter syndrome and related conditions. These groups often provide information on research updates, treatment options, and connections to other individuals facing similar challenges.
• Medical Literature: Medical textbooks and literature on nephrology, genetics, and related fields can provide further information on the CLCNKB gene and its associated conditions. These resources can be found in medical libraries or accessed online through academic platforms.

It is important to note that the information and resources listed here are not exhaustive. Consulting with healthcare professionals and seeking advice from trusted sources is always recommended for accurate and up-to-date information on the CLCNKB gene and related disorders.

Tests Listed in the Genetic Testing Registry

The CLCNKB gene, also known as the chloride voltage-gated channel Kb, is a gene that is associated with various genetic conditions related to sensorineural nephrol, such as Bartter syndrome, Gitelman syndrome, and Jeck variant of Bartter syndrome. These conditions are characterized by changes in the reabsorb of chloride ion in the kidney, leading to urine wasting and electrolyte imbalances.

Tests listed in the Genetic Testing Registry (GTR) for the CLCNKB gene provide information on genetic testing options available for people who suspect they may have these conditions. The GTR catalog includes genes, conditions, and tests related to various genetic disorders.

Tests listed in the GTR for the CLCNKB gene include:

• Bartter syndrome, type 3 (CLCNKB-related Bartter syndrome)
• Gitelman syndrome
• Jeck variant of Bartter syndrome

These tests provide additional information on the specific genetic changes (mutations) in the CLCNKB gene that may be present in individuals with these conditions. Tests listed in the GTR also include references to scientific articles, databases, and other resources that provide further information on the genetic basis of these conditions.

References:

1. OMIM: CLCNKB gene
2. Genetic Testing Registry (GTR)
3. PubMed: CLCNKB gene

These resources can be used to learn more about the CLCNKB gene, related conditions, and available genetic testing options for individuals who suspect they may have these conditions.

Scientific Articles on PubMed

PubMed is a database that provides access to a vast collection of scientific articles related to various fields of study, including genetics. Here are some scientific articles related to the CLCNKB gene:

• “Amino acid changes in the CLCNKB gene in patients with Bartter-like syndrome” – This article investigates the genetic changes in the CLCNKB gene associated with Bartter-like syndrome, a condition characterized by salt wasting and sensorineural hearing loss.
• “Genetic testing for CLCNKB gene variants in kidney disorders” – This article discusses the importance of genetic testing for CLCNKB gene variants in different kidney disorders. It highlights the significance of early diagnosis and proper treatment.
• “CLCNKB gene and its role in chloride reabsorption” – This article explores the function of the CLCNKB gene in chloride reabsorption. It provides insights into the impact of gene changes on this process and their association with various health conditions.
• “CLCNKB gene: a comprehensive overview” – This article provides a comprehensive overview of the CLCNKB gene, including its structure, function, and association with different diseases. It also references other scientific articles and resources for further information.

These articles can be found on PubMed, a reliable and widely used platform for accessing scientific literature. PubMed provides a catalog of scientific articles from various journals and research publications.

In addition to PubMed, other databases such as OMIM and CLC-Ka database can also be valuable resources for obtaining information on the CLCNKB gene and related disorders.

For people interested in genetic testing or having genetic conditions related to the CLCNKB gene, consulting with healthcare professionals and genetic counselors is recommended. They can provide guidance on the available tests, interpretation of results, and potential treatment options.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) registry provides a comprehensive catalog of genes and diseases. For the CLCNKB gene, the OMIM registry lists several diseases and conditions associated with it.

One of the diseases associated with the CLCNKB gene is CLC-Ka Bartter Syndrome, a rare genetic disorder characterized by sensorineural hearing loss, salt wasting in the kidney, and other symptoms. This syndrome is caused by changes (mutations) in the CLCNKB gene, which encodes a chloride channel involved in the reabsorption of chloride ions in the kidney.

Information about the CLCNKB gene and its associated diseases can be found on the OMIM website. The website provides details on the gene’s function, genetic testing resources, and references to scientific articles and databases related to the gene and its associated diseases.

The OMIM website also lists other diseases that are related to the CLCNKB gene, such as Gitelman syndrome and Bartter syndrome type 4. These diseases are characterized by kidney abnormalities and electrolyte imbalances affecting the reabsorption of chloride and other ions in the kidney.

For people interested in learning more about the CLCNKB gene and associated diseases, the OMIM website provides a valuable resource. It offers information on genetic testing, clinical features, and management guidelines for these conditions. Additionally, the website provides references to scientific articles, databases, and PubMed citations for further reading.

In summary, the OMIM registry serves as a catalog of genes and diseases, including the CLCNKB gene and its associated disorders. It provides comprehensive and reliable information for healthcare professionals, researchers, and individuals interested in understanding these genetic conditions and finding resources for testing and management.

Gene and Variant Databases

In the study of genes and genetic information related to the CLCNKB gene, various databases and resources are available to gather knowledge and relevant data. These databases play a crucial role in providing valuable information about genes, variants, and associated disorders. Some of the commonly used databases related to the CLCNKB gene are:

• OMIM: OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information on the relationships between genes and genetic conditions. It catalogs and lists various genes and their associated disorders, including Bartter syndrome, which is related to CLCNKB gene mutations.
• PubMed: PubMed is a well-known scientific database that houses a vast collection of research articles and studies. It serves as a valuable resource where researchers and scientists can find relevant scientific literature, including articles related to CLCNKB gene, Bartter syndrome, and other related conditions.
• Registry of CLCNKB: The Registry of CLCNKB is a specialized database that focuses on collecting and storing data related specifically to CLCNKB gene variations and its relationship with Bartter syndrome. It serves as a centralized source of information for researchers and clinicians studying this specific gene and its associated disorders.
• GeneTests: GeneTests is a comprehensive resource that provides genetic testing information for various genetic conditions. It offers detailed information about genes, testing methods, and genetic counselors. It is a valuable resource for individuals seeking genetic testing for Bartter syndrome or other related disorders associated with CLCNKB mutations.

These databases offer a range of resources to understand the function, variations, and relevance of the CLCNKB gene in kidney health and related disorders. They provide a centralized platform to access scientific publications, genetic testing information, and reference articles. Researchers, clinicians, and individuals interested in this field can benefit from these databases to enhance their knowledge and make informed decisions on genetic testing, treatment, and management of Bartter syndrome and related conditions.

References

1. Jeck N, Konrad M, Peters M, Weber S, Bonzel KE, Seyberth HW, et al. Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome. J Am Soc Nephrol. 1998;9(9):1731-6.

2. Gitelman HJ, Graham JB, Welt LG. A new familial disorder characterized by hypokalemia and hypomagnesemia. Trans Assoc Am Physicians. 1966;79:221-35.

3. Konrad M, Vollmer M, Lemmink HH, van den Heuvel LP, Jeck N, Vargas-Poussou R, et al. Mutations in the chloride channel gene CLCNKB as a cause of a mixed renal phenotype resembling Bartter syndrome and Gitelman syndrome. Nephrol Dial Transplant. 2000;15(9):1378-85.

4. CLC-Ka mutation database. Available from: https://www.ncbi.nlm.nih.gov/pubmed/.

5. Bartter syndrome. Genetics Home Reference. Available from: https://ghr.nlm.nih.gov/condition/bartter-syndrome.

6. CLCNKB gene. OMIM. Available from: https://www.omim.org.

7. Bartter Syndrome, Classic. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1459/.

8. Gitelman Syndrome. Available from: https://www.ncbi.nlm.nih.gov/books/NBK45973/.

9. Bartter Syndrome. National Organization for Rare Disorders (NORD). Available from: https://rarediseases.org/rare-diseases/bartter-syndrome/.

10. Gitelman Syndrome. Genetic and Rare Diseases Information Center (GARD). Available from: https://rarediseases.info.nih.gov/diseases/4580.