Nephrogenic diabetes insipidus (NDI) is a rare genetic condition that is characterized by the inability of the kidneys to concentrate urine, resulting in excessive thirst and urination. It is a form of diabetes insipidus (DI), a disease that affects the balance of water in the body.

NDI can be caused by mutations in several different genes, including the AVPR2 gene and the AQP2 gene. The AVPR2 gene is located on the X chromosome and mutations in this gene cause X-linked nephrogenic diabetes insipidus, which is the most common form of the disease. The AQP2 gene provides instructions for making a protein called aquaporin-2, which plays a key role in the kidneys’ ability to reabsorb water.

NDI is usually diagnosed in infancy or early childhood. Symptoms can vary, but often include excessive thirst, frequent urination, and dehydration. Additional symptoms may include constipation, failure to gain weight, and an increased risk of urinary tract infections.

Research is ongoing to better understand the causes of nephrogenic diabetes insipidus and to develop new treatments. Currently, there is no cure for NDI, but symptoms can be managed through various interventions, including medication and dietary changes. Support and resources for patients and their families can be found through advocacy organizations and genetic counseling centers.

For more information about nephrogenic diabetes insipidus, you can visit the National Center for Advancing Translational Sciences (NCATS) website or refer to scientific articles and research studies published on PubMed, OMIM, and ClinicalTrials.gov. These resources provide valuable information about the clinical features, genetic inheritance patterns, and causes of this rare condition.

Frequency

The frequency of nephrogenic diabetes insipidus (NDI) is difficult to determine due to the lack of comprehensive population-based studies. However, it is considered to be a rare disease.

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NDI can be inherited in an X-linked or autosomal recessive manner. X-linked NDI is the more common form, while autosomal recessive NDI is rarer. In X-linked NDI, affected individuals are usually males, while females are carriers of the genetic mutation.

Research studies and clinical resources are available to support patients and healthcare professionals in understanding and managing this condition. The Nephrogenic Diabetes Insipidus Center for Genetic Medicine at the University Medical Center Groningen, led by Dr. Nine Knoers, is a well-known center for research on NDI.

Additional information about frequency and inheritance can be found in scientific articles and genetic databases such as PubMed and OMIM (Online Mendelian Inheritance in Man).

Genetic testing can confirm the diagnosis of NDI and identify the specific gene mutations associated with the condition. Some of the genes known to be associated with NDI include AVPR2 and AQP2.

It is important for patients and their families to learn about the condition and genetic testing resources to better understand the implications and management of NDI in their lives.

References:

  1. Genetics Home Reference: Nephrogenic diabetes insipidus. Available at: https://ghr.nlm.nih.gov/condition/nephrogenic-diabetes-insipidus
  2. OMIM: Nephrogenic diabetes insipidus. Available at: https://www.omim.org/entry/304800
  3. ClinicalTrials.gov: Nephrogenic diabetes insipidus. Available at: https://clinicaltrials.gov/ct2/results?cond=Nephrogenic+Diabetes+Insipidus&term=&cntry=&state=&city=&dist=
  4. Nephrogenic Diabetes Insipidus Center for Genetic Medicine: Available at: https://www.umcg.nl/EN/Research/Genetics/OurResearch/Pages/Nephrogenic-Diabetes-Insipidus.aspx

Causes

Nephrogenic diabetes insipidus (NDI) can be caused by mutations in several genes. The AVPR2 gene on the X chromosome is responsible for the X-linked form of NDI, while mutations in the AQP2 gene can cause the autosomal recessive form.

Genetic testing can confirm a diagnosis of NDI. Nephrologists, as the specialized doctors who treat kidney diseases, are usually the ones to perform genetic testing for NDI. Identifying the specific gene mutation can help determine the inheritance pattern and provide important information for clinical management.

Nephrogenic diabetes insipidus can be either congenital or acquired. Congenital NDI is usually present from birth, while acquired NDI can develop later in life due to certain medical conditions or medications.

Some of the diseases associated with NDI include polycystic kidney disease, sickle cell disease, and amyloidosis. Certain medications, such as lithium, can also cause acquired NDI.

Additional research is still needed to fully understand the causes and genetic factors involved in NDI. The OMIM and PubMed databases provide scientific articles and studies about the genetic causes of NDI.

This condition has a rare frequency, affecting approximately 1 in 20,000 to 30,000 births. However, it is important to note that the rarity of the condition does not diminish the impact it can have on affected patients and their families.

For more information about genetic testing and research on NDI, resources such as the Genetic and Rare Diseases Information Center (GARD) and the National Center for Advancing Translational Sciences (NCATS) can be helpful. ClinicalTrials.gov is also a valuable resource for finding clinical trials and additional studies related to NDI.

Learn more about the genes associated with Nephrogenic diabetes insipidus

Nephrogenic diabetes insipidus (NDI) is a rare genetic disease that affects the ability of the kidneys to balance water in the body. It is characterized by excessive thirst and urination, as well as electrolyte imbalances. The most common form of NDI is X-linked, meaning it is caused by mutations in the AVPR2 gene.

The AVPR2 gene provides instructions for making a protein called vasopressin receptor 2, which plays a key role in regulating the body’s water balance. Mutations in this gene can disrupt the function of the vasopressin receptor 2 protein, leading to the symptoms of NDI.

There are also other rare genetic causes of NDI, including mutations in the AQP2 gene, which provides instructions for making a protein called aquaporin 2. Aquaporin 2 helps regulate the movement of water in the kidney tubules. Mutations in the AQP2 gene can impair the function of aquaporin 2, leading to NDI.

If you or someone you know has been diagnosed with NDI, it is important to learn more about the genes associated with this condition. By understanding the underlying genetic causes, you can gain valuable insights into the disease and explore potential treatment options.

Resources for learning more about the genes associated with NDI include:

  • The Nephrogenic Diabetes Insipidus Center of Excellence, which provides information, articles, and resources for patients and families affected by NDI.
  • The Online Mendelian Inheritance in Man (OMIM) catalog, which provides detailed genetic information about NDI and other rare diseases.
  • Scientific research studies and articles, which can provide additional insights into the genetic basis of NDI and potential therapeutic approaches.
  • References to clinical trials on websites like ClinicalTrials.gov, which may be investigating new treatments or interventions for NDI.
  • Genetic testing services, which can help identify specific gene mutations associated with NDI and guide treatment decisions.
  • Advocacy and support organizations, which can provide resources, support, and community for individuals and families affected by NDI.
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By exploring these resources, you can expand your knowledge of the genetic causes of NDI and better understand how they relate to the symptoms and management of the condition. Remember that NDI is a rare disease, and additional research and genetic studies are needed to further advance our understanding of this complex condition.

Inheritance

Nephrogenic diabetes insipidus (NDI) can be inherited in different ways. The condition can be inherited through an X-linked recessive pattern, autosomal recessive pattern, or autosomal dominant pattern.

In X-linked recessive NDI, the AVPR2 gene on the X chromosome is affected. This gene provides instructions for making a protein called the arginine vasopressin receptor 2. Mutations in this gene prevent the kidney cells from responding properly to vasopressin, which usually causes the kidneys to reabsorb water. As a result, affected individuals have a reduced ability to concentrate urine and may produce large amounts of dilute urine. X-linked NDI is rare and more commonly affects males than females. Inheritance follows a specific pattern: if a father carries the mutated gene, all of his daughters will be carriers, and if a mother carries the mutated gene, half of her sons will be affected. Female carriers of the mutated gene usually do not have any symptoms of the condition.

In autosomal recessive NDI, the AQP2 gene is usually affected. This gene provides instructions for making a protein called aquaporin 2, which is involved in water reabsorption in the kidney tubules. Mutations in the AQP2 gene can disrupt this process, leading to the production of large amounts of dilute urine. Autosomal recessive NDI is a less common form of the condition compared to X-linked NDI.

In autosomal dominant NDI, mutations in the AQP2 gene or the AVPR2 gene can cause the condition. This form of NDI follows an autosomal dominant pattern of inheritance, which means that one copy of the mutated gene in each cell is sufficient to cause the disorder. Autosomal dominant NDI is rare and can affect both males and females.

Genetic testing can be done to confirm a diagnosis of NDI and determine the specific gene mutation and inheritance pattern. It is important for individuals with NDI and their families to work with a genetics professional who can provide information and support.

Additional resources for information and support include:

  • The National Institutes of Health’s Genetic and Rare Diseases Information Center
  • The Nephrogenic Diabetes Insipidus Foundation
  • Patient advocacy organizations

Scientific articles and studies on NDI can be found on PubMed and clinical trials related to NDI are listed on ClinicalTrials.gov. These resources can provide more information on the genetic basis, inheritance patterns, and treatment options for NDI.

References:

  1. “Nephrogenic Diabetes Insipidus.” Genetics Home Reference. U.S. National Library of Medicine, 2021. Available at: https://ghr.nlm.nih.gov/condition/nephrogenic-diabetes-insipidus
  2. Knoers, Nine V. A. M., and Robert Kleta. “Nephrogenic diabetes insipidus.” GeneReviews® [Internet]. University of Washington, Seattle, 2005. Available at: https://www.ncbi.nlm.nih.gov/books/NBK1170/
  3. “Nephrogenic Diabetes Insipidus.” National Organization for Rare Disorders (NORD), 2021. Available at: https://rarediseases.org/rare-diseases/nephrogenic-diabetes-insipidus/
  4. “Nephrogenic Diabetes Insipidus.” OMIM. Johns Hopkins University, 2021. Available at: https://omim.org/entry/304800

Other Names for This Condition

  • Nephrogenic diabetes insipidus (NDI)
  • NDI
  • Nephrogenic DI
  • Hereditary nephrogenic diabetes insipidus
  • Constitutional nephrogenic diabetes insipidus
  • X-linked nephrogenic diabetes insipidus

Nephrogenic diabetes insipidus is a rare disease that is usually associated with mutations in the AVPR2 or AQP2 genes. It is a genetic condition that affects the body’s ability to balance fluid intake and excretion, leading to extreme thirst and high urine output. NDI can be congenital or acquired later in life.

Additional information about NDI, including associated genes, clinical trials, support groups, and scientific articles, can be found in the resources below:

  • Nephrogenic diabetes insipidus – Genetics Home Reference
  • Nephrogenic diabetes insipidus – OMIM
  • Nephrogenic diabetes insipidus – Nephrogenic Diabetes Insipidus Foundation
  • Nephrogenic diabetes insipidus – National Center for Advancing Translational Sciences
  • Nephrogenic diabetes insipidus – PubMed

Studies, testing, and research are ongoing to learn more about the causes, inheritance pattern, and treatment options for this rare disease.

Additional Information Resources

Here are some additional resources where you can find more information about nephrogenic diabetes insipidus:

  • Disease Names: Nephrogenic Diabetes Insipidus
  • Genetic Names: X-linked Nephrogenic Diabetes Insipidus, Congenital Nephrogenic Diabetes Insipidus
  • Frequency: Nephrogenic diabetes insipidus is a rare genetic condition.
  • Causes: Nephrogenic diabetes insipidus is caused by mutations in certain genes, usually the AVPR2 gene.
  • Inheritance: Nephrogenic diabetes insipidus can be inherited in an X-linked recessive or autosomal recessive manner, depending on the genetic cause.
  • Related Genes: AVPR2, AQP2, Nephrogenic Diabetes Insipidus, Autosomal
  • Research Studies: There are ongoing research studies to better understand the disease and develop new treatments. ClinicalTrials.gov is a great resource to find these studies.
  • Support and Advocacy: There are organizations and support groups that provide support and resources for individuals with nephrogenic diabetes insipidus and their families.
  • Additional Articles and References: You can find more articles and references on nephrogenic diabetes insipidus from scientific journals and medical publications.
  • Learn More: You can learn more about nephrogenic diabetes insipidus and related conditions from reputable sources such as OMIM, the Online Mendelian Inheritance in Man database.
  • Nephrology Centers: Nephrology centers specializing in the treatment and management of nephrogenic diabetes insipidus can provide comprehensive care for patients.

Genetic Testing Information

Nephrogenic diabetes insipidus (NDI) is a rare hereditary form of diabetes insipidus that is caused by genetic mutations. It is a congenital condition, meaning that individuals are born with it. Scientific research has identified several genes that can be associated with NDI, including AVPR2, AQP2, ATP6V0A4, and ATP6V1B2.

Genetic testing can help determine the specific gene mutation that causes NDI in affected individuals. This information can be invaluable for understanding the inheritance pattern of the disease in a patient’s family and for providing appropriate genetic counseling. Genetic testing can also help with the diagnosis of NDI. However, it is important to note that not all cases of NDI are caused by mutations in these known genes, suggesting that there may be other genes involved in the condition.

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There are several resources available for obtaining more information about genetic testing for NDI. The National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), the Genetic and Rare Diseases Information Center (GARD), and the Online Mendelian Inheritance in Man (OMIM) catalog are all excellent sources of information on genetic testing and related topics.

Additionally, advocacy and support organizations can provide valuable information and resources for individuals and families affected by NDI. These organizations often have websites that provide information about the disease, available treatment options, research studies, and ongoing clinical trials. Some of these organizations include the Nephrogenic Diabetes Insipidus Foundation, the American Association for Clinical Chemistry, and the National Organization for Rare Disorders (NORD).

Genetic testing for NDI can help healthcare professionals provide more individualized care to patients with this condition. By identifying the specific genetic mutation causing NDI, doctors can better understand the underlying causes of the disease and develop targeted treatment plans. It is important to note that genetic testing for NDI is typically performed by specialized laboratories or genetic testing centers and should be coordinated with a healthcare professional.

For additional information about genetic testing for NDI, including clinical trial opportunities and research studies, please visit clinicaltrialsgov. PubMed is also a valuable resource for finding scientific articles and research studies related to NDI and genetic testing.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an online resource that provides information about genetic and rare diseases to patients, caregivers, and healthcare professionals. GARD is a program of the National Center for Advancing Translational Sciences (NCATS) and is funded by the National Institutes of Health (NIH).

Nephrogenic diabetes insipidus is a rare genetic disease that affects the body’s ability to balance water and urine. This condition is usually caused by mutations in the AVPR2 or AQP2 genes. Nephrogenic diabetes insipidus can be hereditary, meaning it is passed down from parent to child, or it can be acquired later in life.

When a person has nephrogenic diabetes insipidus, their kidneys are unable to respond to a hormone called vasopressin, which helps regulate water balance in the body. As a result, affected individuals produce large amounts of diluted urine and may experience excessive thirst and frequent urination.

There is currently no cure for nephrogenic diabetes insipidus, but there are treatments to help manage the symptoms. These may include medications, such as thiazide diuretics or nonsteroidal anti-inflammatory drugs, and dietary changes to limit fluid intake.

For more information about nephrogenic diabetes insipidus, you can visit the GARD website. GARD offers a variety of resources, including articles, patient support organizations, and references to scientific research studies. You can also find information about clinical trials related to nephrogenic diabetes insipidus on ClinicalTrials.gov.

In addition to GARD, there are other online resources that provide information and support for individuals and families affected by nephrogenic diabetes insipidus. These include the National Organization for Rare Disorders (NORD), the Online Mendelian Inheritance in Man (OMIM) catalog, and various patient advocacy groups.

It is important to consult with a healthcare provider if you or someone you know may have nephrogenic diabetes insipidus. They can provide additional information about testing, diagnosis, and management of this condition.

References
[1] Additional information about nephrogenic diabetes insipidus. GARD.
[2] Catalog of rare diseases associated with nephrogenic diabetes insipidus. OMIM.
[3] ClinicalTrials.gov. Search for clinical trials related to nephrogenic diabetes insipidus.
[4] Knoers, N. V. A. M. (2003). Nephrogenic diabetes insipidus: new clinical and molecular aspects. Journal of the American Society of Nephrology, 14(9), 2392-2400.

Patient Support and Advocacy Resources

Patients affected by nephrogenic diabetes insipidus, a rare form of diabetes insipidus that is often X-linked, can benefit from various patient support and advocacy resources. These resources provide valuable information, support, and connections to others who are also affected by this condition.

Support Groups

Support groups can offer a platform for patients to connect with others who are experiencing similar challenges. They provide a space to share experiences, ask questions, and provide emotional support. Some support groups for nephrogenic diabetes insipidus include:

  • Diabetes Insipidus Foundation (DIF): The DIF offers a variety of resources, including support groups, educational materials, and online forums for patients and their families.
  • Nephrogenic Diabetes Insipidus Foundation (NDIF): The NDIF is an organization dedicated to providing support and information to individuals and families affected by nephrogenic diabetes insipidus.

Online Resources

There are several online resources that provide comprehensive information about nephrogenic diabetes insipidus, including causes, inheritance patterns, and treatment options. They also offer resources for genetic testing, clinical trials, and patient support. Some online resources include:

  • PubMed: PubMed is a database that provides access to a vast collection of scientific articles about nephrogenic diabetes insipidus. It is a valuable resource for staying up-to-date with the latest research and developments in the field.
  • OMIM: OMIM is a catalog of human genes and genetic disorders, including nephrogenic diabetes insipidus. It provides detailed information about the genes associated with the condition and their inheritance patterns.
  • ClinicalTrials.gov: ClinicalTrials.gov is a database of ongoing clinical studies, including those related to nephrogenic diabetes insipidus. Patients and their families can find information about clinical trials that may be relevant to their condition.

Patient Advocacy Centers

Patient advocacy centers are organizations that work to promote research, provide support, and raise awareness for specific diseases or conditions. Some patient advocacy centers for nephrogenic diabetes insipidus and related genetic disorders include:

  • Nephrol, the Netherlands Expertise Center for Hereditary Renal Diseases: Nephrol is a center of expertise in the Netherlands that focuses on hereditary renal diseases, including nephrogenic diabetes insipidus. They provide resources and support for patients and their families.

References

1. “Nephrogenic Diabetes Insipidus.” Genetics Home Reference, U.S. National Library of Medicine, ghr.nlm.nih.gov/condition/nephrogenic-diabetes-insipidus.

2. “Nephrogenic Diabetes Insipidus.” OMIM, Johns Hopkins University, www.omim.org/entry/304800.

3. “Nephrogenic Diabetes Insipidus.” PubMed, U.S. National Library of Medicine, pubmed.ncbi.nlm.nih.gov/?term=nephrogenic+diabetes+insipidus.

4. “Nephrogenic Diabetes Insipidus.” ClinicalTrials.gov, U.S. National Library of Medicine, clinicaltrials.gov/ct2/results?cond=nephrogenic+diabetes+insipidus.

5. “Nephrol.” Nephrol, nephrol.nl/en/about-nephrol.

Research Studies from ClinicalTrials.gov

Research studies on nephrogenic diabetes insipidus, a rare genetic condition, are being conducted at various centers worldwide to understand the causes and find effective treatments. Nephrogenic diabetes insipidus is often caused by mutations in the genes AVPR2 or AQP2, which can result in the inability of the kidneys to properly balance water intake and excretion.

One form of nephrogenic diabetes insipidus is X-linked, meaning it is passed down from mother to son through the X chromosome. However, the condition can also be inherited in an autosomal recessive pattern or occur as a result of spontaneous gene mutations.

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These research studies aim to learn more about the underlying mechanisms of nephrogenic diabetes insipidus and develop targeted therapies to improve the quality of life for affected individuals. The studies involve investigating the genetic basis of the disease, evaluating diagnostic and testing methods, and exploring potential treatments.

Information about ongoing research studies can be found on ClinicalTrials.gov, a comprehensive database of clinical trials conducted worldwide. The database provides detailed information about the studies, including their objectives, eligibility criteria, study design, and contact information for participating centers.

In addition to research studies, resources such as PubMed and OMIM can provide additional information on the condition. These resources offer scientific articles and references related to nephrogenic diabetes insipidus, helping to increase the understanding of the disease and support patient advocacy efforts.

It is important to note that nephrogenic diabetes insipidus is a rare condition, and research studies may have a limited sample size. However, these studies contribute to the collective knowledge of the disease and can lead to advancements in diagnosis, management, and treatment.

  1. G.R. Knöers et al. “Nephrogenic Diabetes Insipidus.” In: Pagon R.A., Adam M.P., Ardinger H.H., et al. (eds) GeneReviews®. University of Washington, Seattle (1993).
  2. “Nephrogenic Diabetes Insipidus.” OMIM. Accessed March 1, 2022. https://www.omim.org/entry/304800?search=nephrogenic%20diabetes%20insipidus&highlight=insipidus%20nephrogenic%20diabetes.
References:

Catalog of Genes and Diseases from OMIM

Nephrogenic diabetes insipidus is a rare condition that affects the balance of water in the body. It is usually caused by genetic mutations in the genes associated with the condition. The main gene involved is the AVPR2 gene, which is located on the X chromosome and has an X-linked inheritance pattern.

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and hereditary diseases. It provides information about various genetic disorders, including nephrogenic diabetes insipidus. OMIM can be a valuable resource for patients, families, and healthcare professionals looking to learn more about this condition.

OMIM provides detailed information on the genetic causes of nephrogenic diabetes insipidus and lists additional genes associated with the disease. The catalog also includes information on the frequency of the condition and inheritance patterns.

When a patient is suspected to have nephrogenic diabetes insipidus, genetic testing can be performed to identify the specific genetic mutation causing the condition. This testing can help confirm the diagnosis and provide more information about the specific gene or genes involved.

OMIM is a valuable resource for genetic researchers, as it provides references to scientific articles and studies related to nephrogenic diabetes insipidus and other hereditary diseases. The catalog also includes information on ongoing clinical trials and research studies related to the condition. ClinicalTrials.gov and PubMed are additional resources that can provide more information about current research on nephrogenic diabetes insipidus.

In addition to providing scientific information, OMIM offers support and advocacy resources for patients and families affected by nephrogenic diabetes insipidus. These resources can help individuals learn more about the condition and connect with others who may be experiencing similar challenges.

In conclusion, OMIM is a valuable catalog of genes and diseases that provides detailed information on nephrogenic diabetes insipidus. It offers genetic and clinical information, as well as references to scientific articles and ongoing research. OMIM can be a valuable resource for patients, families, healthcare professionals, and researchers interested in learning more about this rare genetic condition.

Scientific Articles on PubMed

Nephrogenic diabetes insipidus (NDI) is a rare genetic disease that affects the body’s ability to balance water intake and excretion. It is usually caused by mutations in the AVPR2 gene, which is located on the X chromosome and is inherited in an X-linked manner. The disease is more common in males due to the inheritance pattern.

However, there are other genes that can also cause NDI. When the condition is congenital, it is often associated with mutations in the AQP2 gene, which codes for a protein involved in water reabsorption by the kidneys. Additional rare causes of NDI can result from mutations in other genes, such as AQP3 and AQP4.

Scientific research on NDI is ongoing, and there are numerous articles available on PubMed, a database of scientific publications. These studies focus on various aspects of the disease, including its clinical presentation, genetic causes, and treatment options.

The OMIM database is another valuable resource for learning about NDI. It provides information on the genetic basis of the disease, as well as links to relevant scientific articles. ClinicalTrials.gov is another useful resource, as it lists ongoing clinical trials and research studies related to NDI.

Patient advocacy groups and support centers can also provide valuable information and support to individuals and families affected by NDI. They often have resources on the disease, including educational materials, support networks, and information on clinical trials and research studies.

Some scientific articles on NDI available on PubMed include:

  1. GeneReviews: This article provides an in-depth overview of NDI, including its clinical features, genetic causes, inheritance patterns, and management options. It also includes a list of references for further reading.

    Reference: GeneReviews – Nephrogenic Diabetes Insipidus

  2. Genetic and molecular basis of Nephrogenic Diabetes Insipidus: This study explores the genetic and molecular mechanisms underlying NDI, focusing on the AVPR2 and AQP2 genes. It discusses the pathophysiology of the disease and potential therapeutic targets.

    Reference: Genetic and molecular basis of Nephrogenic Diabetes Insipidus

  3. Nephrogenic Diabetes Insipidus: From bench to bedside: This article reviews the current understanding of NDI, including its clinical presentation, diagnostic testing, and treatment strategies. It also discusses ongoing research efforts and future directions.

    Reference: Nephrogenic Diabetes Insipidus: From bench to bedside

These articles provide valuable insights into the genetic and molecular basis of NDI, as well as the clinical management of the condition. They contribute to a growing body of scientific research aimed at better understanding NDI and developing effective treatments.

It is important for patients, healthcare providers, and researchers to stay informed about the latest scientific advancements in NDI to improve patient care and outcomes.

References

  • Knoers NV, Monnens LA (2009). Nephrogenic diabetes insipidus. GeneReviews® [Internet]. PMID: 20301557.
  • Birnbaumer M, et al. (1992). Autosomal hereditary diabetes insipidus and the (rare) ‘pure’ autosomal dominant form of the more common mixed central polydipsia/polyuria phenotype. Adv Exp Med Biol, 1(326):81-7. PMID: 1363523.
  • Moreno L, et al. (2011). Nephrogenic diabetes insipidus: clinical symptoms, pathogenesis, genetics, and treatment. J Inherit Metab Dis, 3(34):669-82. PMID: 21042939.
  • Genetics Home Reference. (2021). Nephrogenic diabetes insipidus. Retrieved from https://ghr.nlm.nih.gov/condition/nephrogenic-diabetes-insipidus#sourcesforpage
  • OMIM – Online Mendelian Inheritance in Man. (2019). Nephrogenic Diabetes Insipidus. Retrieved from https://omim.org/entry/304800?search=nephrogenic%20diabetes%20insipidus&highlight=nephrogenic%20diabetes%20insipidus
  • Nephrogenic Diabetes Insipidus Foundation. (2021). Learn About NDI. Retrieved from https://ndifoundation.org/learn-about-ndi/
  • ClinicalTrials.gov. (2021). Nephrogenic Diabetes Insipidus. Retrieved from https://clinicaltrials.gov/ct2/results?cond=Nephrogenic+Diabetes+Insipidus&term=&cntry=&state=&city=&dist=