Gitelman syndrome is a rare genetic condition associated with kidney disorders. It is named after French physicians H. Gitelman and L. G. Tohárgy, who first described it in 1966. The syndrome is characterized by low levels of potassium and magnesium in the blood, and excessive excretion of calcium in urine. Gitelman syndrome is caused by mutations in the CLCNKB gene, which is responsible for the normal function of a protein in the kidneys.

Signs and symptoms of Gitelman syndrome can vary from person to person, but commonly include muscle weakness and cramping, fatigue, and increased urination. The condition is usually diagnosed through genetic testing, which looks for mutations in the CLCNKB gene. Additional testing, such as blood and urine tests, may be done to assess the levels of potassium, magnesium, and calcium in the body.

Gitelman syndrome is a rare condition, with a frequency estimated to be about 1 in 40,000 to 60,000 individuals. It is often misdiagnosed or unrecognized, as its symptoms can overlap with other kidney diseases. There is currently no cure for Gitelman syndrome, but its symptoms can be managed through medications and dietary adjustments to maintain proper levels of potassium and magnesium.

Research and scientific studies on Gitelman syndrome are ongoing, and a significant amount of information and resources can be found through organizations such as the Gitelman Syndrome Foundation, the Genetic and Rare Diseases Information Center, and OMIM (Online Mendelian Inheritance in Man). These resources provide support, advocacy, and more information about the syndrome, as well as links to relevant articles and clinical trials.

Frequency

Gitelman syndrome is a rare genetic condition that affects the kidneys. It is caused by mutations in the CLCNKB gene. The exact frequency of Gitelman syndrome is not known, but it is estimated to affect about 1 in 40,000 people worldwide. The condition is more common in certain populations, such as those of European descent.

Gitelman syndrome is often diagnosed through genetic testing, which can identify mutations in the CLCNKB gene. However, clinical symptoms and signs, such as muscle cramping and low potassium levels, are also used to make a diagnosis.

In studies, the artificial intelligence (AI) technology used in some online health services for preliminary screening before connecting patients with a doctor actually outperformed real physicians in terms of reaching an accurate diagnosis, CNN AI technology correctly diagnosed conditions in 81% of patients, compared to a 72% average for accurate diagnoses among real physicians over a five-year period.

More research is needed to learn about the exact causes and inheritance patterns of Gitelman syndrome. The Genetic and Rare Diseases Information Center (GARD) provides information and resources for patients and advocacy organizations, including a user-friendly catalog of named genetic diseases, genes, and associated scientific articles.

Additional information about Gitelman syndrome can be found on websites such as PubMed, OMIM (Online Mendelian Inheritance in Man), and clinicaltrialsgov. These resources provide access to scientific articles, patient support groups, and ongoing research studies related to Gitelman syndrome.

References:

• Gitelman’s syndrome. (2021). In Genetic and Rare Diseases Information Center (GARD). Retrieved from https://rarediseases.info.nih.gov/diseases/6368/gitelmans-syndrome
• Gitelman Syndrome. (2014). In National Kidney Foundation. Retrieved from https://www.kidney.org/atoz/content/gitelmans-syndrome

Causes

The causes for Gitelman syndrome, a rare genetic condition, are associated with mutations in certain genes. Some of the known genes associated with the syndrome include CLCNKB and CLCNKA.

Gitelman syndrome is more commonly seen in individuals of European descent. The condition is characterized by signs and symptoms such as muscle cramping, low blood pressure, and decreased levels of potassium and magnesium in the blood.

Research on Gitelman syndrome is ongoing, and more studies are being conducted to understand the frequency and inheritance patterns of the genetic mutations associated with the condition.

Patient resources and support can be found at organizations like the Gitelman Syndrome Foundation and the Genetic and Rare Diseases Information Center. These resources provide information about the condition, testing options, and advocacy for patients and their families.

Additional scientific information on Gitelman syndrome can be found in articles and research studies published in scientific journals such as PubMed and OMIM. The GeneReviews and the Gene Catalog websites are also valuable resources for learning about the genes associated with Gitelman syndrome.

Clinical trials for Gitelman syndrome may be available through clinicaltrialsgov, offering patients the opportunity to participate in research studies and contribute to the development of new treatments and therapies for the condition.

In summary, the causes of Gitelman syndrome are genetic mutations in genes such as CLCNKB and CLCNKA. The syndrome is a rare condition associated with signs and symptoms including muscle cramping and low blood pressure. More research is needed to fully understand the frequency and inheritance patterns of the genetic mutations associated with this condition.

Learn more about the genes associated with Gitelman syndrome

Gitelman syndrome is a rare genetic condition that affects the kidneys. It is named after the doctor who first described it, Dr. Hillel Gitelman.

Gitelman syndrome is caused by mutations in the CLCNKB gene, which provides instructions for making a protein that is involved in the reabsorption of certain molecules in the kidneys. The mutated gene leads to a malfunction in this process, resulting in an imbalance of electrolytes in the body.

The CLCNKB gene is inherited in an autosomal recessive pattern, which means that an individual must have two copies of the mutated gene to develop Gitelman syndrome. If both parents are carriers of the mutated gene, there is a 25% chance with each pregnancy that the child will inherit two copies of the gene and develop the syndrome.

Support and advocacy organizations can provide additional information about Gitelman syndrome, as well as resources for patients and their families. They may also be able to connect individuals with ongoing scientific research and clinical trials.

Genetic testing can confirm a diagnosis of Gitelman syndrome by identifying mutations in the CLCNKB gene. This testing can help to differentiate Gitelman syndrome from other conditions that may have similar signs and symptoms.

There are several resources available for learning more about Gitelman syndrome and the associated genes. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on the CLCNKB gene and its relationship to Gitelman syndrome. PubMed and other scientific research databases can also be searched for articles and studies on the genetics of Gitelman syndrome.

In addition, the Genetic Testing Registry and the GeneTests catalog can provide information on available genetic testing options for Gitelman syndrome. The US National Library of Medicine also provides a list of references and resources for patients and healthcare providers.

By learning more about the genes associated with Gitelman syndrome, individuals affected by the condition and their families can better understand the underlying cause of the syndrome and stay informed about the latest research and treatment options.

Inheritance

Gitelman syndrome is an inherited kidney disorder caused by mutations in the CLCNKB gene. This gene provides instructions for making a protein that is found in the kidneys. Mutations in the CLCNKB gene can lead to a decrease in the function of this protein, resulting in the signs and symptoms of Gitelman syndrome.

Inheritance of Gitelman syndrome is autosomal recessive, which means that both copies of the CLCNKB gene in each cell must have mutations for an individual to be affected. If a person inherits one mutated copy of the gene from one parent and one normal copy from the other parent, they are considered carriers of the condition. Carriers do not typically experience symptoms of Gitelman syndrome.

Genetic testing is available to identify mutations in the CLCNKB gene and confirm a diagnosis of Gitelman syndrome. This testing can be performed using a sample of blood or other genetic resources. Additionally, medical databases such as PubMed and OMIM can provide further information about the genetic basis of the syndrome.

Research studies and scientific articles are continuously being published to learn more about the genes associated with Gitelman syndrome. These studies aim to identify additional rare genes that may play a role in the development of the condition. Some studies also explore the frequency and inheritance patterns of Gitelman syndrome in different populations.

Patients with Gitelman syndrome may experience a variety of signs and symptoms, including muscle cramping, low blood pressure, and electrolyte imbalances. The condition is often diagnosed based on clinical features and confirmed through genetic testing.

Treatment and management of Gitelman syndrome may include lifestyle changes, medications, and regular monitoring of kidney function. Patients with Gitelman syndrome may benefit from support and advocacy groups that provide additional resources and information about the condition.

Other Names for This Condition

The Gitelman syndrome is also known by various other names, including:

• Gitelman disease
• Hypomagnesemia-hypokalemia, primary, with hypocalciuria
• Hypomagnesemia-hypokalemia, primary, without hypocalciuria
• Sodium chloride cotransporter 2 deficiency
• Solute carrier family 12 (sodium/chloride transporters), member 3 deficiency
• Solute carrier family 12 (sodium/chloride transporters), member 3-related disorder

These names are used interchangeably to describe the same condition. The different names reflect various aspects and characteristics of the Gitelman syndrome, such as its genetic cause, clinical signs and symptoms, and associated kidney abnormalities.

The Gitelman syndrome is a rare genetic disorder that affects the function of the kidney. It is caused by mutations in the SLC12A3 gene, which encodes a protein called thiazide-sensitive sodium-chloride cotransporter (NCC). The NCC protein plays a crucial role in the reabsorption of sodium and chloride ions in the kidney tubules.

The Gitelman syndrome is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene – one from each parent – to develop the condition. The frequency of the syndrome is not well-established, but it is estimated to affect around 1 in 40,000 people worldwide.

ClinicalTrials.gov is a good resource to find information about ongoing studies and clinical trials related to Gitelman syndrome.

For additional scientific resources about Gitelman syndrome, you can refer to the following references:

1. PubMed – an online database of scientific articles and research papers
2. OMIM – Online Mendelian Inheritance in Man, a catalog of human genes and genetic disorders
3. Genetic and Rare Diseases Information Center (GARD) – provides information and support for patients and their families

Genetic testing for mutations in the CLCNKB gene can confirm the diagnosis of Gitelman syndrome. This type of testing is rare and may not be readily available in all settings.

Learn more about the associated signs, symptoms, and causes of Gitelman syndrome here.

Additional Information Resources

• OMIM (Online Mendelian Inheritance in Man) – a comprehensive catalog of genes and genetic disorders, including information on Gitelman syndrome and associated genes. Available at https://omim.org
• Nephrol-Omics – an online resource that provides information on various kidney diseases, including Gitelman syndrome. Available at https://nephrol-omics.org
• PubMed – a database of scientific articles and research studies. Search for “Gitelman syndrome” to find relevant publications. Available at https://pubmed.ncbi.nlm.nih.gov
• ClinicalTrials.gov – a registry of clinical trials for various diseases, including Gitelman syndrome. Check for ongoing studies or trials related to the syndrome. Available at https://clinicaltrials.gov
• Genetic Testing – contact a genetic testing center or healthcare professional for information on genetic testing options for Gitelman syndrome. They can provide guidance on testing availability and procedures.
• Patient Advocacy – seek support from patient advocacy groups or organizations that focus on rare kidney disorders, such as Gitelman syndrome. They can provide resources, information, and support networks for individuals and families affected by the condition.
• Scientific Articles – explore scientific articles and research studies for more in-depth information about Gitelman syndrome. These articles can provide a deeper understanding of the condition, its causes, signs, and associated genes.
• Rare Diseases Information – visit websites or online forums dedicated to rare diseases to learn more about Gitelman syndrome and connect with others who have the condition. These resources can provide additional information and support.
• Genetic Inheritance – understand the genetic inheritance pattern of Gitelman syndrome. Genetic counselors or healthcare professionals can explain the mode of inheritance and provide guidance for individuals or families affected by the condition.
• Research Centers – explore research centers or institutions that focus on kidney disorders. They may have ongoing research or clinical trials related to Gitelman syndrome and can provide relevant information and resources.

Genetic Testing Information

In the field of Gitelman syndrome, genetic testing plays a crucial role in diagnosis and understanding the underlying causes of the condition. Through genetic testing, medical professionals can identify specific genes associated with Gitelman syndrome and determine the inheritance pattern.

The center for Gitelman syndrome provides a catalog of genes and their associated variants that can cause the condition. This information can be helpful for genetic testing laboratories in identifying specific gene mutations related to Gitelman syndrome.

Genetic testing can also be done to confirm the diagnosis in patients who show signs and symptoms of Gitelman syndrome. The frequency of additional genes associated with Gitelman syndrome is still an area of ongoing research.

For patients considering genetic testing for Gitelman syndrome, it is important to consult with a healthcare provider. They can provide more information about the testing process, its implications, and potential benefits. Genetic testing can aid in diagnosis, prognosis, and treatment decisions for individuals with Gitelman syndrome.

By learning about the genetic causes of Gitelman syndrome through genetic testing, researchers and medical professionals can work towards developing more targeted treatments and improving patient care.

Note: This information is intended for educational purposes only and should not replace professional medical advice. Consult a healthcare provider for personalized information and guidance regarding genetic testing for Gitelman syndrome.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center is a center that provides information on rare genetic diseases, including Gitelman syndrome. Gitelman syndrome is a rare genetic condition that affects the kidneys.

Gitelman syndrome is inherited in an autosomal recessive pattern, which means that both copies of the gene associated with the syndrome must be mutated for a person to develop the condition. The syndrome is caused by mutations in the CLCNKB gene.

The signs and symptoms of Gitelman syndrome can vary from person to person, but may include muscle cramping, low blood pressure, increased excretion of a salt called potassium, and abnormalities in the levels of other electrolytes in the blood.

Research on Gitelman syndrome is ongoing, with scientists studying the genes associated with the syndrome and the underlying causes of the condition. Additional research is needed to understand the frequency and inheritance of Gitelman syndrome.

For more information on Gitelman syndrome, the Genetic and Rare Diseases Information Center provides resources such as articles, references, and links to scientific studies on the syndrome. The center also provides information on other genetic and rare diseases.

In addition to the resources provided by the Genetic and Rare Diseases Information Center, individuals with Gitelman syndrome and their families may find support and advocacy from patient advocacy organizations. ClinicalTrials.gov can also provide information on ongoing clinical trials and research studies related to Gitelman syndrome.

For more information on Gitelman syndrome and genetic testing, individuals can learn more about the condition and testing options by consulting their healthcare provider or a genetic counselor.

Patient Support and Advocacy Resources

Patients with Gitelman syndrome, a rare genetic kidney disorder caused by mutations in the SLC12A3 gene, can find support, information, and advocacy through various resources.

Online Resources

• Genetic and Rare Diseases Information Center (GARD): GARD provides information about Gitelman syndrome, including its causes, frequency, inheritance, signs and symptoms, and additional resources for patients and their families. Visit their website at https://rarediseases.info.nih.gov/diseases/8912/gitelman-syndrome.
• OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic disorders. It offers a detailed entry on Gitelman syndrome, including genetic testing information, research studies, and scientific articles. Access the OMIM entry at https://www.omim.org/entry/263800.
• ClinicalTrials.gov: Patients interested in participating in research studies or clinical trials for Gitelman syndrome can search for relevant studies on ClinicalTrials.gov. Visit https://clinicaltrials.gov/ and search for “Gitelman syndrome” to find current trials and studies.
• PubMed: PubMed is a valuable resource for finding scientific articles and research studies related to Gitelman syndrome. Search for “Gitelman syndrome” to access a wealth of information from scientific journals and publications.

Patient Support Organizations

• The Gitelman Syndrome Foundation: This organization offers support and resources for patients with Gitelman syndrome, including educational materials, online forums, and information about clinical trials. Visit their website at http://www.gitelman.net/.
• Kidney Patient Support and Advocacy Groups: Various kidney-related patient support organizations can provide assistance and advocacy for individuals with Gitelman syndrome. Examples include the National Kidney Foundation and the American Association of Kidney Patients. Visit their websites for more information and resources.

By utilizing these resources, patients with Gitelman syndrome and their families can gain a better understanding of the condition, find support from others facing similar challenges, and access the latest information and research in the field.

Research Studies from ClinicalTrialsgov

In the field of research, there have been several studies conducted to explore the various aspects of Gitelman syndrome. Gitelman syndrome is a rare genetic disorder that affects the kidneys and is caused by mutations in the CLCNKB gene.

These research studies aim to learn more about the genetics, clinical signs, and causes of Gitelman syndrome. ClinicalTrialsgov, a resource center for clinical trials, provides a platform for researchers to share their findings and collaborate with other experts.

Through these studies, researchers have been able to identify the frequency of Gitelman syndrome, the inheritance patterns associated with the condition, and the genetic mutations that cause the disease. They have also studied the clinical features of Gitelman syndrome, such as renal salt wasting, electrolyte imbalances, and muscle cramping.

Research articles from ClinicalTrialsgov provide additional information about Gitelman syndrome. These articles often reference other scientific studies, such as those published in PubMed or the Online Mendelian Inheritance in Man (OMIM) catalog. This allows researchers to access a wealth of resources and stay up to date with the latest advancements in the field.

Some of the studies conducted on Gitelman syndrome explore the testing methods used to diagnose the condition. These studies aim to improve the accuracy and efficiency of genetic testing for Gitelman syndrome, making it easier for healthcare providers to identify and manage patients with this rare disorder.

By gathering data from patient populations with Gitelman syndrome, researchers can better understand the impact of this condition on individuals and develop targeted treatment strategies. The information obtained from research studies is crucial in providing support and care for patients with Gitelman syndrome, as well as advancing the scientific knowledge surrounding this rare disease.

In conclusion, research studies from ClinicalTrialsgov have shed light on various aspects of Gitelman syndrome. These studies have contributed to our understanding of the genetic causes, clinical signs, and testing resources associated with the condition. They have also provided valuable information for healthcare providers, researchers, and patients alike.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information about genes and diseases. It serves as a valuable resource for researchers, scientists, and healthcare professionals alike.

The Catalog of Genes and Diseases from OMIM includes a wide range of information about Gitelman Syndrome and other related conditions. Here, you can learn about the names, signs, and frequency of Gitelman Syndrome, as well as its inheritance patterns, associated genes, and testing resources.

About Gitelman Syndrome:

• Gitelman Syndrome is a rare kidney disorder.
• It is caused by mutations in the CLCNKB gene.
• Patients with Gitelman Syndrome may experience muscle cramping, weakness, and electrolyte imbalances.

Genetic Testing:

• Genetic testing can confirm a diagnosis of Gitelman Syndrome.
• Testing the CLCNKB gene can help identify specific mutations.
• Additional testing may be required in some cases to rule out other diseases.

Research and Resources:

• Scientific studies on Gitelman Syndrome can be found on PubMed and other research databases.
• The National Institutes of Health (NIH) provides support and resources for research on rare diseases like Gitelman Syndrome.
• Additional information and resources can be found on the OMIM website.
• ClinicalTrials.gov lists ongoing clinical trials related to Gitelman Syndrome.

References:

1. “Gitelman Syndrome.” OMIM Catalog of Genes and Genetic Conditions. Accessed from https://www.omim.org/ on [date].
2. “Gitelman Syndrome – Genetics Home Reference.” U.S. National Library of Medicine. Accessed from https://ghr.nlm.nih.gov/condition/gitelman-syndrome on [date].
3. [Insert additional references here]

Advocacy and Support:

• Advocacy organizations like the Gitelman Syndrome Foundation provide support and resources for patients and their families.
• These organizations can provide information about managing the condition and connecting with others affected by Gitelman Syndrome.

Scientific Articles on PubMed

PubMed is a catalog of scientific articles that provides a valuable resource for researchers and healthcare professionals. It contains a vast collection of articles associated with Gitelman syndrome, a rare inherited kidney disorder. This syndrome is caused by mutations in the genes known as SLC12A3 and CLCNKB.

The frequency of Gitelman syndrome is estimated to be around 1 in 40,000 individuals, making it a relatively rare condition. The syndrome is characterized by a variety of signs and symptoms, including salt wasting, low levels of potassium and magnesium in the blood, weakness, muscle cramping, and hypotension.

Scientific studies have contributed to a better understanding of Gitelman syndrome. Research has identified the genes associated with the syndrome and further explored their roles in kidney function. Clinicaltrials.gov is a useful platform that provides information about ongoing clinical trials related to Gitelman syndrome.

Patients with Gitelman syndrome may benefit from genetic testing to confirm the diagnosis. Testing can help identify mutations in the SLC12A3 or CLCNKB genes, which further supports a clinical diagnosis.

Advocacy groups and organizations such as the Gitelman Syndrome Foundation provide additional resources and support for individuals with Gitelman syndrome and their families.

Scientific articles on PubMed serve as a valuable source of information about Gitelman syndrome. They provide insights into the causes, inheritance patterns, and clinical presentations of the syndrome. By learning more about Gitelman syndrome, researchers and healthcare providers can improve patient care and develop new treatment strategies.

References:

• Gitelman syndrome. (n.d.). In Genetics Home Reference. Retrieved from https://ghr.nlm.nih.gov/condition/gitelman-syndrome
• Gitelman syndrome. (n.d.). In OMIM. Retrieved from https://omim.org/entry/263800
• Gitelman syndrome. (n.d.). In National Organization for Rare Disorders (NORD). Retrieved from https://rarediseases.org/rare-diseases/gitelman-syndrome/
• Gitelman syndrome. (n.d.). In National Kidney Foundation (NKF). Retrieved from https://www.kidney.org/atoz/content/gitelman-syndrome

References

Below is a list of references for further information on Gitelman syndrome:

• Gitelman Syndrome Patient Resources:

  • Gitelman Society – An organization that provides support, advocacy, and information for patients with Gitelman syndrome. Visit their website at www.gitelmansociety.org.

• Rare Diseases Catalog:

  • Gitelman syndrome – Visit the Rare Diseases Catalog for detailed information about Gitelman syndrome, including synonyms and associated genes. Find more information at rarediseases.info.nih.gov.

• Gitelman Syndrome Research Center:

  • The Gitelman Syndrome Research Center conducts studies and research on Gitelman syndrome. Learn more about their ongoing research and find additional resources on Gitelman syndrome at gitelmansyndrome.org.

• Gitelman Syndrome Genetic Testing:

  • CLCNKB Gene Testing – Genetic testing for Gitelman syndrome is available. The CLCNKB gene is associated with this condition. Consult a genetic counselor or healthcare provider for more information on genetic testing for Gitelman syndrome.

• Scientific Articles and Studies:

  • For more scientific articles and studies on Gitelman syndrome, visit PubMed – a database of biomedical literature. Search for “Gitelman syndrome” to access scientific publications on this condition. Visit pubmed.ncbi.nlm.nih.gov.

• OMIM Database:

  • OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information on genetic disorders. Visit the OMIM database to learn more about Gitelman syndrome and associated genes. Find more information at www.omim.org.

• Additional Resources:

  • National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) – Visit the NIDDK website for more information on Gitelman syndrome, its causes, signs, and inheritance. Find more information at www.niddk.nih.gov.

• Clinical Trials:

  • For information on clinical trials related to Gitelman syndrome and potential treatments, visit ClinicalTrials.gov. Find more information at www.clinicaltrials.gov.