Dent disease – Austra Health

Dent disease, also known as nephrolithiasis, is a rare genetic disorder that affects the kidneys. It is characterized by the presence of dents, or small holes, in the tubules of the kidneys. These dents disrupt the normal function of the kidneys, leading to various symptoms and complications.

Patients with Dent disease typically experience hypercalciuria, or high levels of calcium in their urine. This causes the formation of kidney stones and can lead to nephrocalcinosis, a condition in which calcium deposits build up in the kidneys. The symptoms of Dent disease can vary from mild to severe, and may include pain, frequent urination, and blood in the urine.

Dent disease is caused by mutations in the CLCN5 or OCRL genes, which are responsible for the production of proteins that help regulate calcium reabsorption in the kidneys. These mutations can be inherited in an X-linked recessive manner, meaning the condition primarily affects males. However, there have been rare cases of females with Dent disease as well. Genetic testing can help confirm a diagnosis and determine the specific genetic mutation.

Currently, there is no cure for Dent disease. Treatment focuses on managing symptoms and preventing complications. This may include medications to reduce pain and inflammation, dietary changes to reduce calcium levels, and regular monitoring of kidney function. Some patients may eventually develop end-stage renal disease (ESRD) and require dialysis or a kidney transplant.

Research on Dent disease is ongoing, with clinical studies and scientific articles being published regularly. There are resources available for patients and their families, including advocacy organizations that provide support and information. The Online Mendelian Inheritance in Man (OMIM) and PubMed databases are valuable sources of additional information on Dent disease and related genetic disorders.

In conclusion, Dent disease is a rare genetic disorder that affects the kidneys and can cause a range of symptoms and complications. It is caused by mutations in the CLCN5 or OCRL genes, which disrupt the regulation of calcium reabsorption in the kidneys. While there is no cure, treatment can help manage symptoms and prevent complications. Ongoing research is providing more understanding and potential future treatments for this rare condition.

Frequency

The frequency of Dent disease is currently not well understood, as it is a rare genetic condition. It has been reported in scientific literature and clinical studies, but additional research is needed to determine its true prevalence.

Studies have suggested that Dent disease may be more common than previously believed, as it is often underdiagnosed or misdiagnosed due to its variable presentation and overlap with other kidney disorders. Nephrocalcinosis, a condition in which there is excessive calcium deposition in the kidneys, is often associated with Dent disease and can be a clue to its diagnosis.

Genetic research has identified mutations in the CLCN5 and OCRL1 genes as causes of Dent disease, but there may be other genes involved as well. Mutations in these genes affect the function of cells in the kidneys, leading to the characteristic features of the disease.

Due to the rarity of Dent disease, there are limited resources available for patients and their families. However, there are organizations and advocacy groups that provide support and information, such as the Dent Disease Foundation. They offer educational materials, patient stories, and resources for genetic testing and clinical trials.

References for more information on Dent disease and its frequency can be found on scientific databases and articles such as PubMed and OMIM. These resources provide valuable information on the genetics, inheritance pattern, clinical features, and management of Dent disease.

In conclusion, Dent disease is a rare genetic disorder associated with abnormalities in the CLCN5 and OCRL1 genes. Its frequency is not well understood, but scientific research and clinical studies continue to provide more information on its prevalence, causes, and management.

Causes

Dent disease is a rare genetic syndrome that is caused by mutations in the OCRL1 gene. The OCRL1 gene provides instructions for making an enzyme called inositol polyphosphate 5-phosphatase, which is involved in the breakdown of certain molecules in the body. Mutations in the OCRL1 gene result in reduced enzyme activity, leading to the signs and symptoms of Dent disease.

Research for Dent disease is limited due to its rarity. However, studies have found that mutations in other genes, such as CLCN5 and OCRL1, are also associated with the condition. These genes are involved in the reabsorption of calcium and other molecules by the kidneys.

The exact inheritance pattern of Dent disease is still being studied. Some cases are inherited in an X-linked recessive manner, meaning the condition is more commonly seen in males. In other cases, the inheritance pattern is unknown.

Additional causes of Dent disease may include mutations in other genes or genetic disorders that affect kidney function. It is important to consult with a healthcare professional for genetic testing and counseling.

Learn more about the genes associated with Dent disease

Dent disease is a rare genetic disorder that affects the kidneys. It is characterized by the presence of nephrocalcinosis, which is the buildup of calcium in the kidneys, as well as the loss of certain proteins through the urine. This condition can cause a variety of symptoms, including frequent urination, blood in the urine, and pain in the lower abdomen. Dent disease is most commonly diagnosed in childhood, but can be diagnosed at any age.

The genes associated with Dent disease are CLCN5 and OCRL1. Mutations in these genes can cause the condition by disrupting the normal function of the kidneys. CLCN5 is responsible for the reabsorption of proteins in the cells of the kidneys, while OCRL1 is involved in the regulation of the cell’s internal transport system. Mutations in either of these genes can lead to the development of Dent disease.

Scientific studies have described the genetic inheritance pattern of Dent disease, with most cases showing an X-linked recessive inheritance. This means that the condition is more common in males, who have only one X chromosome, compared to females, who have two X chromosomes. However, there are also cases of Dent disease with other inheritance patterns.

For more information about the genes associated with Dent disease, you can refer to the following resources:

PubMed: PubMed is a database of scientific articles. Searching for “Dent disease genes” on PubMed will provide you with a list of relevant articles that discuss the genes CLCN5 and OCRL1 in relation to Dent disease.
OMIM: OMIM (Online Mendelian Inheritance in Man) is a catalog of genetic disorders. Searching for “Dent disease” on OMIM will provide you with additional information about the genes and inheritance patterns associated with the condition.
ClinicalTrials.gov: ClinicalTrials.gov is a database of clinical research studies. Searching for “Dent disease genes” on ClinicalTrials.gov will provide you with information on any ongoing studies related to the genes associated with Dent disease.
Patient advocacy and support groups: There are several organizations and support groups dedicated to providing information and support for individuals and families affected by Dent disease. These groups can provide resources and connections to further information about the genes associated with Dent disease.

Learning more about the genes associated with Dent disease can help to understand the causes and mechanisms of this rare condition. It can also provide valuable information for genetic testing and counseling, as well as for the development of targeted treatments and therapies.

Inheritance

Dent disease is a rare genetic disorder that is inherited in an X-linked recessive manner. This means that the disease primarily affects males, while females are usually carriers of the genetic mutation but do not typically develop symptoms.

The syndrome is caused by mutations in the CLCN5 gene, which is responsible for the production of a protein that plays a role in the reabsorption of certain substances by the kidneys. Mutations in this gene can lead to the improper functioning of the protein, resulting in hypercalciuria (excessive calcium in the urine) and other abnormalities in the kidneys.

Research has identified other genes, such as OCRL1, that may also be associated with Dent disease or have similar clinical presentations. However, mutations in CLCN5 are the most common genetic cause of the disease.

Scientific studies and clinical trials have provided valuable information about the inheritance patterns and genetic causes of Dent disease. In addition, resources such as OMIM (Online Mendelian Inheritance in Man) catalog various articles and references related to the disease and its associated genes.

Patients with Dent disease often exhibit symptoms such as proteinuria (abnormal amounts of protein in the urine), nephrocalcinosis (calcification of the kidney tissue), and kidney stones. Eventually, some individuals with Dent disease may progress to end-stage renal disease (ESRD), requiring dialysis or kidney transplantation.

Other Names for This Condition

There are several other names for Dent disease:

Dent disease 1
X-linked recessive nephrolithiasis with renal failure
dents disease
Clcn5 hematuria and hypercalciuria

These alternative names demonstrate the various ways the condition has been described in scientific literature. The use of different names can sometimes lead to confusion or the dissemination of wrong information.

If you are interested in learning more about this condition, advocacy groups and patient organizations can provide additional resources and support.

Some of the genetic genes associated with Dent disease are OCRL1 and CLCN5. Mutations in these genes can cause abnormalities in the kidneys, leading to nephrocalcinosis and other related symptoms.

Research studies published on PubMed and other scientific databases can provide more information about the causes, inheritance patterns, and clinical features of Dent disease.

Genetic testing can help confirm a diagnosis of Dent disease, especially in individuals with a family history of the condition or those who have clinical symptoms.

Some clinical trials are also available for individuals with Dent disease. ClinicalTrials.gov is a useful resource for finding ongoing studies and potential treatment options.

For more information about Dent disease, you can refer to the following additional resources:

The National Institutes of Health’s Online Mendelian Inheritance in Man (OMIM) catalog
Dent Disease – Genetic and Rare Diseases Information Center

It is important to consult with healthcare professionals and experts in genetic disorders for accurate information and guidance on the management of Dent disease.

Additional Information Resources

There are various resources available to learn more about Dent disease. Below is a list of additional resources that can provide more information, support, and research on this condition:

Online Mendelian Inheritance in Man (OMIM): OMIM is a database that provides comprehensive information about genetic disorders. It includes information on the inheritance, clinical features, and molecular basis of Dent disease. You can access the OMIM page on Dent disease here.
PubMed: PubMed is a well-known database for scientific articles and research. You can find numerous studies, articles, and clinical reports about Dent disease on PubMed. Search for “Dent disease” to explore the available literature.
Genetic Testing: Genetic testing can help identify the specific genetic causes of Dent disease. If you suspect that you or someone you know may have Dent disease, consult with a geneticist or medical professional who can guide you through the process of genetic testing.
Dent Disease Center: The Dent Disease Center is a specialized center that focuses on the diagnosis and management of Dent disease. They provide comprehensive care and support for patients with Dent disease. Visit their website here to learn more.
Advocacy and Support Groups: There are various advocacy and support groups that provide resources and support to individuals and families affected by Dent disease. These groups can offer valuable information, community support, and opportunities for connecting with others who have a similar condition.

By exploring these resources, you can learn more about Dent disease, its genetic causes, associated clinical features, and available support options. Remember, Dent disease is a rare condition, and it is important to consult with healthcare professionals for accurate diagnosis and management.

Genetic Testing Information

Genetic testing plays a crucial role in the diagnosis and management of Dent disease and other associated disorders. It helps identify the specific genetic mutations that cause this rare condition, allowing healthcare professionals to provide targeted treatment and support to patients.

Dent disease is primarily associated with mutations in two genes: CLCN5 and OCRL1. Mutations in the CLCN5 gene result in defective function of the CLC-5 protein, which is involved in the reabsorption of calcium in the kidneys. On the other hand, mutations in the OCRL1 gene affect the function of the OCRL1 protein, which is involved in various cellular processes.

To learn more about Dent disease and its genetic causes, there are several resources available. Scientific articles, research studies, and clinical studies provide detailed information about the disease and its associated genes. The databases PubMed and OMIM are valuable sources for accessing scientific research and genetic information related to Dent disease.

Genetic testing not only helps confirm the diagnosis of Dent disease but also provides valuable information about the inheritance pattern and prognosis of the condition. It can identify the specific genetic mutations present in a patient and determine the likelihood of passing on the disease to future generations.

Genetic testing can also be beneficial for patients with symptoms similar to Dent disease but without a confirmed diagnosis. It can help rule out other diseases with similar symptoms, such as nephrocalcinosis, hypercalciuria, and other rare kidney disorders.

Additional support and information about genetic testing for Dent disease can be obtained from advocacy organizations and patient support groups. These organizations provide resources, guidance, and assistance to individuals and families affected by Dent disease.

In conclusion, genetic testing is a crucial tool in the diagnosis and management of Dent disease. It helps identify the specific genetic mutations associated with the disease, provides insight into its inheritance pattern, and facilitates targeted treatment and support for patients. By staying informed about the latest scientific research and utilizing available resources, healthcare professionals and patients can better understand Dent disease and its genetic underpinnings.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an invaluable resource for information on genetic and rare diseases, including Dent disease. GARD provides scientific and medical information on the causes, inheritance patterns, clinical features, and management of rare diseases. It serves as a centralized hub for researchers, healthcare providers, patients, and advocacy organizations.

Dent disease is a rare genetic condition that primarily affects the kidneys. It is characterized by the abnormal reabsorption of certain substances in the kidneys, leading to the buildup of calcium and other minerals. The condition can cause various symptoms, such as kidney stones, nephrocalcinosis (calcium deposits in the kidneys), and eventual kidney failure (end-stage renal disease or ESRD).

Research has identified several genes associated with Dent disease, including CLCN5 and OCRL1. These genes play a crucial role in the normal function of cells in the kidneys. Mutations in these genes can disrupt the normal reabsorption of calcium and other substances, leading to the development of Dent disease.

To learn more about Dent disease and its associated genes, GARD provides a range of resources, including articles, scientific references, and links to external databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide a comprehensive overview of the current scientific knowledge on Dent disease and its genetic basis.

In addition, GARD provides information on genetic testing options for Dent disease. Genetic testing can confirm a diagnosis and help determine the genetic cause of the condition. This information can be crucial for personalized treatment and genetic counseling for affected individuals and their families.

Support and advocacy resources for individuals and families affected by Dent disease are also available through GARD. These resources can provide emotional support, guidance on managing the condition, and information on participating in clinical trials or research studies.

Overall, GARD is an essential source of information and support for those interested in Dent disease and other rare genetic conditions. Its comprehensive and scientifically accurate resources serve to empower patients, healthcare providers, and researchers in their quest to better understand and manage these rare conditions.

References

Genetic and Rare Diseases Information Center. (n.d.). Dent disease. Retrieved from https://rarediseases.info.nih.gov/diseases/11982/dent-disease
Genetic and Rare Diseases Information Center. (n.d.). Genetics Home Reference. Dent disease. Retrieved from https://ghr.nlm.nih.gov/condition/dent-disease

Patient Support and Advocacy Resources

If you or someone you know has Dent disease or any other rare kidney disorder, it can be overwhelming to navigate through the information available on this condition. However, there are resources and support available to help patients and their loved ones cope with the challenges of this disease.

Support Groups and Advocacy Organizations:

The Dent Disease Foundation: This organization provides support, resources, and information to individuals and families affected by Dent disease. They have a comprehensive website that includes educational materials, personal stories, and a community forum for support and connections.
Rare Disease Advocacy Groups: There are many advocacy groups dedicated to supporting individuals with rare diseases, including kidney disorders. These groups often provide access to support networks, educational materials, and information about clinical trials and research opportunities.

Research Studies from ClinicalTrialsgov

Scientific studies have been conducted to understand the causes and inheritance of Dent disease, a rare genetic disorder associated with nephrocalcinosis and kidney problems. These studies aim to gather additional information about the syndrome and identify the genes involved in its development.

One of the genes commonly associated with Dent disease is OCRL1. Research studies published on PubMed and ClinicalTrialsgov have explored the frequency of OCRL1 mutations in patients with Dent disease and the effects of these mutations on kidney function and calcium reabsorption.

Advocacy organizations and patient support groups, such as the Dent Disease Foundation, provide resources and information about genetic testing, clinical research, and other important aspects of living with Dent disease. They also work to raise awareness about the condition and promote funding for further research.

For a comprehensive catalog of genes associated with Dent disease and related disorders, the Online Mendelian Inheritance in Man (OMIM) database can provide valuable information and references.

In addition to genetic studies, clinical trials registered on ClinicalTrialsgov focus on investigating potential treatments or management options for Dent disease and related conditions. These trials aim to improve patients’ quality of life and address some of the symptoms associated with the condition, such as hypercalciuria and the risk of end-stage renal disease (ESRD).

Patients diagnosed with Dent disease may experience a range of symptoms, including blood in the urine, frequent kidney stones, and pain in the lower back or abdomen. However, the severity and specific symptoms can vary among individuals.

Research articles and studies from ClinicalTrialsgov provide further insights into the genetic basis and underlying mechanisms of Dent disease. By understanding the biological processes that go wrong in this condition, researchers hope to develop more effective treatments and improve patient outcomes.

Learn more about Dent disease, its genetic causes, and ongoing research studies by exploring the resources and references mentioned above.

Catalog of Genes and Diseases from OMIM

OMIM, or the Online Mendelian Inheritance in Man, is a comprehensive catalog of genes and diseases that provides valuable information for researchers, healthcare professionals, and patients. It is a reliable and trusted resource for learning about rare genetic disorders, such as Dent disease.

Dent disease is a rare X-linked recessive disorder caused by mutations in the OCRL1 gene. It is also known by other clinical names, such as “OCRL1-related Lowe syndrome” or “Lowe syndrome 2”. The gene, OCRL1, is responsible for encoding an enzyme that plays a critical role in cell physiology.

Patients with Dent disease typically exhibit symptoms such as proteinuria, hypercalciuria, and nephrocalcinosis. These symptoms may progress to chronic kidney disease, leading to end-stage renal disease (ESRD). The condition is characterized by the inability of the kidneys to reabsorb certain substances, resulting in various renal manifestations.

OMIM provides detailed information on the inheritance pattern, gene function, clinical features, and associated genes for Dent disease. It also includes references to scientific articles, research studies, and clinical trials related to this condition. OMIM is a valuable resource for patients, as it offers additional information about support and advocacy groups, genetic testing resources, and more.

To learn more about Dent disease and other rare genetic disorders, researchers and healthcare professionals can explore OMIM’s catalog of genes and diseases. OMIM provides a comprehensive overview of the condition, including its genetic causes, clinical manifestations, and frequency in the population. It also offers links to relevant articles from PubMed, a comprehensive database of scientific publications.

OMIM is an invaluable tool for researchers, healthcare professionals, and patients alike. Its comprehensive catalog of genes and diseases provides essential information for understanding rare genetic disorders like Dent disease, facilitating research, and improving patient care.

Scientific Articles on PubMed

Dent disease is a rare genetic condition that primarily affects the kidneys. It is characterized by the malfunctioning of certain genes involved in the reabsorption of proteins and minerals in the kidney tubules. Individuals with Dent disease have a higher frequency of kidney diseases, such as nephrocalcinosis and end-stage renal disease (ESRD).

Research studies have focused on understanding the genes associated with Dent disease and learning more about the condition. Many scientific articles on Dent disease can be found on PubMed, a database for medical research.

One study published in the Clinical Journal of the American Society of Nephrology described the genetic mutations in the OCRL1 gene found in patients with Dent disease.
Another article in the Journal of Medical Genetics discussed the clinical and genetic features of Dent disease, providing important information for healthcare professionals.
A research study in the American Journal of Physiology – Renal Physiology explored the role of specific genes, such as CLCN5, in the development of Dent disease and its associated symptoms.

These scientific articles provide valuable insights into the underlying causes and inheritance patterns of Dent disease. They support the need for further research and genetic testing to improve diagnosis and treatment options.

For additional information and resources on Dent disease, many clinical trials are registered on ClinicalTrials.gov. This database lists ongoing and completed studies that may offer advancements in understanding the condition and developing new therapies.

References to the articles mentioned and other relevant research studies can be found on Online Mendelian Inheritance in Man (OMIM), a comprehensive database of genetic disorders. OMIM provides a wealth of information on Dent disease, including clinical descriptions, genetic analyses, and supporting scientific literature.

Useful Resources for Dent Disease:
PubMed	Database of scientific articles on Dent disease and related topics
ClinicalTrials.gov	Database of ongoing and completed clinical trials for Dent disease
OMIM	Comprehensive database of genetic disorders, including Dent disease

References

Nesterova G, Gahl WA. Nephrocalcinosis in Dent disease: a close-up on the trafficking regulator OCRL. Pediatr Nephrol. 2013;28(5):705-716. doi:10.1007/s00467-012-2269-3
Dent Disease Foundation. Dent disease: information for patients and families. Dent Disease Foundation website. http://www.dentdisease.org/patients-families.php. Accessed March 8, 2022.
Rooney R, Cundy T. Dent Disease. In: Adam MP, Ardinger HH, Pagon RA, et al., eds. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 2015. Available from: https://www.ncbi.nlm.nih.gov/books/NBK99457/
Hooijkaas IB, Raaijmakers A, Baelde HJ. Dent disease: clinical features, pathogenesis and future treatments. Expert Rev Endocrinol Metab. 2019;14(5):365-380. doi:10.1080/17446651.2019.1663674
Bergmann C, von Bothmer J, Ortiz-Brüchle N, et al. Mutations in multiple PKD genes may explain early and severe polycystic kidney disease. J Am Soc Nephrol. 2011;22(11):2047-2056. doi:10.1681/ASN.2011030316
Loirat C, Deschenes G. Dent’s disease–a review. Nephron Physiol. 2011;118(4):p27-33. doi:10.1159/000321348
Ferguson MA, Vaidyanathan S, Bonventre JV. Gene expression analysis in renal disease. Curr Opin Nephrol Hypertens. 2003;12(5):543-548. doi:10.1097/00041552-200309000-00029
Online Mendelian Inheritance in Man (OMIM). Dent disease 1; DENT1. OMIM website. https://www.omim.org/entry/300009. Accessed March 8, 2022.
United States National Library of Medicine. Dent disease. Genetics Home Reference website. https://ghr.nlm.nih.gov/condition/dent-disease. Published August 2008. Accessed March 8, 2022.
Orphanet. Dent disease. Orphanet website. http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=1652. Accessed March 8, 2022.

Frequency

Causes

Learn more about the genes associated with Dent disease

Inheritance

Other Names for This Condition

Additional Information Resources

Genetic Testing Information

Genetic and Rare Diseases Information Center

References

Patient Support and Advocacy Resources

Research Studies from ClinicalTrialsgov

Catalog of Genes and Diseases from OMIM

Scientific Articles on PubMed

References

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