C3 glomerulopathy

C3 glomerulopathy is a rare condition that affects the kidneys. It is a part of a group of rare diseases known as glomerulopathies, which are caused by deposits of a protein called C3 in the glomeruli, the tiny filters in the kidneys. In C3 glomerulopathy, there is an imbalance in the complement system-related proteins, specifically proteins like CFHR5 and C3, which leads to the abnormal accumulation of C3 in the glomeruli.

Research on C3 glomerulopathy is ongoing, with studies focusing on understanding the causes, inheritance patterns, and genetic factors associated with the condition. Some studies have identified specific genes and polymorphisms that may be involved in the development of this condition. Additionally, autoantibodies targeting C3 have been found in some patients, further adding to the complexity of the disease.

Patients with C3 glomerulopathy may present with a wide range of symptoms, including proteinuria, hematuria, and decreased kidney function. In severe cases, patients may progress to end-stage renal disease (ESRD) and require dialysis or kidney transplantation. Genetic testing and kidney biopsy are commonly used to confirm the diagnosis of C3 glomerulopathy.

There are currently no specific treatments for C3 glomerulopathy. However, research is ongoing to develop targeted therapies that can modulate the complement system and reduce the deposition of C3 in the kidneys. Clinical trials are also underway to test the efficacy of various treatment approaches. In addition, there are advocacy and support groups that provide resources and information for patients and their families.

In conclusion, C3 glomerulopathy is a rare and complex condition that affects the kidneys. It is characterized by abnormal deposits of protein C3 in the glomeruli and is associated with a dysregulation of the complement system-related proteins. Further research is needed to fully understand the causes, inheritance patterns, and treatment options for this condition.

Frequency

The frequency of C3 glomerulopathy varies depending on the specific form and the population studied. It is considered a rare condition, but more common than some other genetic glomerulopathies.

System-related causes:

• C3 glomerulopathy is caused by mutations in genes related to the complement system, which is part of the immune system.
• Polymorphisms in genes encoding complement regulatory proteins can also contribute to the development of the condition.

Other causes:

• Autoantibodies against complement proteins can lead to C3 glomerulopathy.
• Some patients with C3 glomerulopathy have no identifiable genetic or immune system abnormalities, suggesting that other factors may play a role.

The frequency of C3 glomerulopathy may be underestimated due to the lack of awareness and misdiagnosis. However, increased recognition and improved genetic testing methods are expected to lead to a better understanding of the true prevalence of the condition.

Research and clinical trials:

• Research on C3 glomerulopathy is ongoing, with studies aimed at identifying new genes and risk factors associated with the condition.
• Clinical trials are also being conducted to evaluate potential treatments and interventions for C3 glomerulopathy.
• More information about ongoing clinical trials can be found on websites such as ClinicalTrials.gov.

Patient advocacy groups:

• There are patient advocacy groups and support resources available to individuals and families affected by C3 glomerulopathy.
• These groups provide information, resources, and support for patients and their families.

References:

1. Smith RJH, Appel GB, Blom AM, et al. C3 glomerulopathy – understanding a rare complement-driven renal disease. Nat Rev Nephrol. 2019;15(3):129-143. doi:10.1038/s41581-018-0082-6
2. Medjeral-Thomas NR, Pickering MC. The complement factor H-related proteins. Immunol Rev. 2016;274(1):191-201. doi:10.1111/imr.12477
3. OMIM database. Complement component 3 glomerulopathy. Accessed April 15, 2021. https://www.omim.org/entry/615131

Additional resources:

• C3 Glomerulopathy – National Kidney Foundation. https://www.kidney.org/atoz/content/c3-glomerulopathy
• C3 Glomerulopathy – NephCure Kidney International. https://nephcure.org/what-is-fsgs/c3-glomerulopathy/
• Testing for rare genetic kidney diseases – Genetic and Rare Diseases Information Center (GARD). https://rarediseases.info.nih.gov/diseases/topics/testing-rare-genetic-kidney-diseases

Causes

Some information on the causes of C3 glomerulopathy includes:

• Genetic factors: C3 glomerulopathy is associated with certain genes and genetic polymorphisms. Rare genetic conditions, such as CFHR5 nephropathy, can also cause the condition.
• Autoantibodies: In some cases, C3 glomerulopathy can be caused by the presence of autoantibodies that target and deposit C3 proteins in the glomeruli of the kidneys.
• Other diseases: C3 glomerulopathy may be related to other health conditions or diseases, such as systemic lupus erythematosus (SLE) or complement regulatory gene mutations.

More research is needed to fully understand the causes of C3 glomerulopathy. ClinicalTrials.gov and PubMed are valuable resources for additional information and references on this topic.

Learn more about the genes associated with C3 glomerulopathy

C3 glomerulopathy is a rare condition characterized by abnormalities in the kidneys’ glomeruli, which are responsible for filtering the blood. This condition is caused by genetic polymorphisms that affect the C3 protein, as well as other genes related to the complement system.

One of the genes associated with C3 glomerulopathy is CFHR5, which encodes a protein that regulates complement activation. Studies have shown that mutations in the CFHR5 gene can lead to an increased risk of developing C3 glomerulopathy.

In addition to CFHR5, there are other genes that have been identified as being associated with C3 glomerulopathy. These genes include C3, which codes for the C3 protein itself, as well as genes that produce autoantibodies against the C3 protein.

Learning more about these genes and their role in C3 glomerulopathy can provide valuable insight into the causes and mechanisms of this condition. Scientific research and genetic studies have contributed to our understanding of the genetic basis of C3 glomerulopathy.

Resources such as PubMed, OMIM, and the Genetic and Rare Diseases Information Center (GARD) catalog scientific articles, genetic information, and advocacy resources related to C3 glomerulopathy. These resources can provide more information about the genes associated with this condition.

Gene	Associated with C3 Glomerulopathy
CFHR5	Regulates complement activation
C3	Codes for the C3 protein
Autoantibody-producing genes	Produce autoantibodies against the C3 protein

Understanding the genetic basis of C3 glomerulopathy can aid in the development of targeted treatment options and improve patient outcomes. Further research and genetic studies are needed to fully comprehend the complex interplay of genes and factors that contribute to this condition.

Inheritance

C3 glomerulopathy (C3G) can be a genetic condition, meaning that it can be passed down through families. However, it can also occur sporadically, without any family history. The inheritance pattern of C3G is complex and still not fully understood. Researchers have identified several genes that are associated with an increased risk of developing C3G, but these genetic factors do not explain all cases of the condition.

One of the key genes implicated in the development of C3G is CFHR5. Mutations in the CFHR5 gene have been found to be strongly associated with a certain type of C3G called CFHR5 nephropathy. CFHR5 nephropathy tends to run in families and can lead to end-stage renal disease (ESRD) in some individuals.

In addition to CFHR5, other genes related to the complement system have also been identified as risk factors for C3G. Variations and polymorphisms in some of these genes can increase the likelihood of developing the condition. However, it is important to note that C3G can also occur in individuals without any known genetic mutations or variations in these genes. The exact contribution of genetic factors to the development of C3G is still being investigated.

While C3G may have a genetic component, it is important to note that not all cases of C3G are inherited. Some cases occur sporadically, without any family history. It is thought that other factors, such as environmental triggers or autoimmune responses, may also play a role in the development of C3G.

Genetic testing can be used to determine if an individual has specific genetic mutations or variations associated with C3G. This information can help in making a diagnosis and may also provide insights into disease progression and potential treatment options. However, genetic testing is not yet widely available for C3G, and its role in clinical management is still being studied.

In summary, while C3 glomerulopathy can have a genetic component, the exact inheritance pattern and contribution of genetic factors to the development of the condition are still being researched. Genetic mutations and variations in genes related to the complement system have been associated with an increased risk of C3G, but not all cases are inherited. Further studies and research are needed to fully understand the genetic factors and inheritance patterns of C3 glomerulopathy.

Other Names for This Condition

C3 glomerulopathy is also known by several other names:

• C3G
• C3 glomerulonephritis
• C3GN
• Dense deposit disease
• Nephritic factor nephropathy
• Membranoproliferative glomerulonephritis type 2 (MPGN2)
• MPGN III
• C3 nephropathy

These names are used interchangeably to refer to the same condition.

C3 glomerulopathy is a rare group of genetic kidney diseases characterized by abnormal deposits of a protein called C3 in the glomeruli of the kidneys. The condition is caused by mutations in genes involved in the body’s complement system, which is part of the immune system. Abnormal activation of the complement system leads to the deposition of C3 in the glomeruli, leading to inflammation and damage to the kidneys.

Some genetic mutations associated with C3 glomerulopathy include mutations in the CFHR5, CFH, CFI, and CFB genes. These mutations can be inherited in an autosomal dominant or autosomal recessive manner, depending on the specific gene involved.

The frequency of C3 glomerulopathy is not well-defined, but it is considered a rare condition. Additional research is needed to better understand the causes and inheritance patterns of this condition.

Patients with C3 glomerulopathy may present with various symptoms, including hematuria (blood in the urine), proteinuria (protein in the urine), and decreased kidney function. The condition can progress to end-stage renal disease (ESRD), requiring dialysis or kidney transplantation for treatment.

Diagnosis of C3 glomerulopathy involves a combination of clinical evaluation, laboratory tests, and kidney biopsy. Genetic testing may also be performed to identify specific mutations associated with the condition. Treatment options for C3 glomerulopathy are limited and primarily focused on managing symptoms and delaying disease progression. Immunosuppressive medications may be used to reduce inflammation and proteinuria.

Supportive care, including regular monitoring of kidney function and blood pressure control, is also important for managing the condition. Patients with C3 glomerulopathy may benefit from participation in research studies and clinical trials aimed at developing new treatments for the disease.

For more information about C3 glomerulopathy, visit the following resources:

• OMIM: A comprehensive catalog of human genes and genetic disorders, including information on the genes associated with C3 glomerulopathy
• ClinicalTrials.gov: A registry of federally and privately supported clinical trials investigating new treatments for various diseases, including C3 glomerulopathy
• PubMed: A database of scientific articles on a wide range of topics, including C3 glomerulopathy and related conditions
• National Kidney Foundation: Information about glomerulopathies and other kidney-related conditions
• Genetic and Rare Diseases Information Center: A government-funded website providing information about rare diseases and genetic conditions, including C3 glomerulopathy
• NESTER: An online platform connecting patients and families affected by rare kidney diseases, providing support, advocacy, and resources
• CFHR5xCDs: A website dedicated to providing information about CFHR5-related glomerulopathies, including C3 glomerulopathy
• American Glomerulonephritis Support Network: An organization supporting patients with glomerulonephritis, including C3 glomerulopathy, and their families

With proper management and care, individuals with C3 glomerulopathy can lead fulfilling lives and maintain their overall health and well-being.

Additional Information Resources

• Polymorphisms and Genes: Learn more about the genetic variations and genes associated with C3 glomerulopathy, such as CFHR5.
• Clinical Trials: Stay updated on ongoing clinical trials and studies related to C3 glomerulopathy on ClinicalTrials.gov.
• Scientific Research: Access articles, publications, and studies on C3 glomerulopathies and other kidney-related conditions from PubMed.
• Support and Advocacy Groups: Find support from advocacy groups that cater to the needs of patients and families affected by C3 glomerulopathy.
• Genetic Testing: Get information about genetic testing options available for diagnosing C3 glomerulopathy and related conditions.
• Related Diseases and Conditions: Explore other glomerulopathies and kidney-related diseases that share similarities with C3 glomerulopathy.
• References and Catalogs: Access catalogs and references for further in-depth understanding of C3 glomerulopathy and related topics.

Genetic Testing Information

In the context of C3 glomerulopathy, genetic testing plays an important role in understanding the condition and its associated factors. Genetic testing helps identify specific genes and mutations that may be responsible for the development of C3 glomerulopathy.

Genetic testing can be used to diagnose C3 glomerulopathy, identify individuals at risk of developing the condition, and provide information about the inheritance patterns of the disease. It can also help determine the prognosis and guide treatment decisions.

Why is Genetic Testing Important?

Genetic testing provides valuable information about the underlying causes of C3 glomerulopathy. By analyzing an individual’s DNA, genetic testing can help identify mutations in genes related to the complement system, which is responsible for regulating immune responses and protecting against infections.

Identifying specific genetic mutations can help healthcare professionals better understand the disease and its progression, as well as provide information about potential treatment options. Genetic testing can also provide insights into the prognosis and help predict the risk of developing end-stage renal disease (ESRD) associated with C3 glomerulopathy.

How is Genetic Testing Done?

Genetic testing for C3 glomerulopathy typically involves analyzing a sample of DNA obtained from a blood or saliva sample. The sample is sent to a laboratory that specializes in genetic testing, where it is screened for specific genetic variants or mutations associated with the condition.

The results of the genetic testing can help healthcare professionals understand the patient’s risk of developing C3 glomerulopathy and provide personalized treatment options based on their genetic profile.

Genes Associated with C3 Glomerulopathy

Several genes have been identified as being associated with C3 glomerulopathy. These include CFH, CFHR5, C3, and many others. Mutations or polymorphisms in these genes can disrupt the normal functioning of the complement system, leading to the accumulation of C3 deposits in the glomeruli of the kidneys.

Genetic Inheritance Patterns

The inheritance of C3 glomerulopathy can be complex and can vary from person to person. While some cases are caused by spontaneous mutations, others may be inherited in an autosomal dominant or recessive manner.

Family history plays an important role in understanding the genetic inheritance patterns of C3 glomerulopathy. Genetic testing can help determine whether an individual has inherited the condition from their parents and provide information about the likelihood of passing it on to future generations.

Resources for Genetic Testing Information

There are several resources available for individuals and healthcare professionals seeking information about genetic testing for C3 glomerulopathy:

• Online databases: Websites such as OMIM, PubMed, and ClinicalTrials.gov provide access to scientific articles, research studies, and clinical trial information related to genetic testing and C3 glomerulopathy.
• Support groups and patient organizations: These groups can provide additional resources and support for individuals and families affected by C3 glomerulopathy.
• Genetic testing laboratories: Laboratories specializing in genetic testing can provide information about the specific tests available for C3 glomerulopathy and the associated costs.

By utilizing these resources, individuals can learn more about the genetic basis of C3 glomerulopathy and make informed decisions about their own healthcare.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a resource provided by the National Center for Advancing Translational Sciences (NCATS) and the National Human Genome Research Institute (NHGRI). GARD offers comprehensive and reliable information about genetic and rare diseases, including C3 glomerulopathy.

Genetic and rare diseases are conditions that are caused by changes (mutations) in genes. These mutations can result in health problems affecting various parts of the body. In the case of C3 glomerulopathy, mutations in specific genes, such as CFHR5, can lead to abnormal deposits of the protein C3 in the glomeruli of the kidneys. These deposits can cause inflammation and damage to the kidneys, potentially leading to end-stage renal disease (ESRD).

At GARD, you can learn more about the causes and inheritance of C3 glomerulopathy, as well as information about related conditions and support groups. GARD provides a catalog of genes and genetic conditions, including information about the associated genes and their products. You can also find resources for genetic testing and additional information on related diseases and conditions.

GARD is a valuable resource for both patients and healthcare professionals. It offers a wide range of scientific articles, references, and research studies on C3 glomerulopathy and other rare diseases. The website also provides links to PubMed, where you can find more information on glomerulopathies and their causes.

If you’re a patient with C3 glomerulopathy or another rare disease, GARD can help you find advocacy groups and clinical trials focused on your condition. The website also provides information on the frequency of genetic polymorphisms associated with C3 glomerulopathy and encourages patients to participate in research studies.

For more information on C3 glomerulopathy and other rare diseases, visit the Genetic and Rare Diseases Information Center, where you can find a wealth of resources to support your journey towards understanding and managing your condition.

Patient Support and Advocacy Resources

Patients and their families who are affected by C3 glomerulopathy can benefit from various support and advocacy resources available. These resources provide them with information, guidance, and help in navigating through this rare condition.

Here are some patient support and advocacy resources that individuals can access:

1. Learn More about C3 Glomerulopathy: There are several websites and online resources that provide detailed information about C3 glomerulopathy. These resources can help patients understand the condition, its causes, and its impact on the kidneys.
2. Patient Support Groups: Joining patient support groups can provide individuals with a platform to connect with others who are going through similar experiences. These groups provide emotional support, share experiences and knowledge, and offer guidance on coping mechanisms.
3. Educational Materials: Patients can access educational materials provided by various organizations and healthcare institutions. These materials can help them gain a better understanding of the condition, its symptoms, and available treatment options.
4. Genetic Testing and Counseling: Genetic testing can help identify specific genetic mutations or polymorphisms that may be associated with C3 glomerulopathy. Patients can consult with genetic counselors to understand the inheritance patterns and the implications of these genetic variations.
5. Clinical Trials and Research: Patients can explore ongoing clinical trials and scientific research related to C3 glomerulopathy. Websites such as clinicaltrialsgov and PubMed provide information on the latest research studies and trials that patients can participate in.
6. Advocacy Organizations: There are advocacy organizations and foundations that focus on C3 glomerulopathy and related glomerulopathies. These organizations work towards raising awareness, funding research, and providing support to patients and their families.
7. Additional Resources: Patients can seek additional information from healthcare centers specializing in kidney diseases, such as the National Kidney Foundation and the American Association of Kidney Patients. These organizations offer resources, educational materials, and support services for patients with various kidney conditions.

It is important for patients and their families to stay informed and connected to resources that can help them navigate through the challenges of living with C3 glomerulopathy. By utilizing these support and advocacy resources, individuals can gain knowledge, find support, and access the necessary resources to manage their condition and improve their overall health.

For more information about C3 glomerulopathy and associated conditions, refer to the following resources:

• OMIM (Online Mendelian Inheritance in Man): Provides comprehensive information on genetic disorders and associated genes.
• PubMed: A database of scientific articles and research papers on C3 glomerulopathy and related conditions.
• Center for Glomerular Diseases at Columbia University: Offers specialized care and expertise in the diagnosis and treatment of glomerular diseases.
• Deposits, Dialysis, and Dr. Pickering: A website run by Dr. Matthew C. Pickering, a leading expert on C3 glomerulopathy, containing valuable information and resources.

Research Studies from ClinicalTrialsgov

Research studies from ClinicalTrialsgov provide valuable information about the diseases and conditions affecting the body. In the case of C3 glomerulopathy, these studies focus on understanding the frequency, genetic causes, and clinical manifestations of the condition.

Scientists have identified specific genetic polymorphisms associated with C3 glomerulopathy, such as CFHR5 and other genes in the complement system-related pathway. These genetic variations can lead to abnormal deposits of C3 in the kidneys, causing damage to the glomeruli and potentially leading to end-stage renal disease (ESRD).

Research studies aim to investigate the inheritance patterns and explore additional causes of C3 glomerulopathy. By studying patient samples and conducting genetic testing, researchers hope to identify rare genetic variants that contribute to the development of the condition.

ClinicalTrialsgov provides a platform for researchers to share their studies on C3 glomerulopathy and other rare diseases. By publishing and documenting research findings, this resource helps advocate for patients with C3 glomerulopathy and promotes awareness and understanding of the condition.

Some of the research studies available on ClinicalTrialsgov include:

• A study investigating the prevalence and clinical features of C3 glomerulopathy in a specific population.
• A clinical trial testing the efficacy and safety of a novel therapy for the treatment of C3 glomerulopathy.
• An observational study examining the natural history and progression of C3 glomerulopathy in patients over time.

In addition to ClinicalTrialsgov, researchers and healthcare professionals can explore other scientific resources like PubMed and OMIM to access more articles and references related to C3 glomerulopathy. These resources provide a wealth of information to support further research and understanding of this condition.

By learning more about C3 glomerulopathy and its associated genes and autoantibodies, researchers hope to develop better diagnostic tools, treatment options, and supportive care for patients affected by this rare kidney condition.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a valuable resource that provides information about various genetic diseases, including C3 glomerulopathy.

OMIM, which stands for Online Mendelian Inheritance in Man, lists the genetic conditions according to a systematic cataloging system. This cataloging system helps to organize the vast amount of information related to genes and diseases in an orderly manner.

C3 glomerulopathy is a group of rare kidney diseases characterized by abnormal deposits of a protein called C3 in the kidneys’ glomeruli. These conditions are often genetic in nature, meaning they can be inherited from one or both parents. However, some cases of C3 glomerulopathy can also occur sporadically without a clear genetic cause.

OMIM provides detailed information about the genes associated with C3 glomerulopathy, such as CFHR5, and their corresponding genetic variants. It also includes clinical descriptions of the condition, associated symptoms, and information about ongoing research and clinical trials.

OMIM is an invaluable resource for researchers, healthcare professionals, and patients alike, as it helps expand our understanding of the genetic and clinical aspects of C3 glomerulopathy. It provides a comprehensive list of references, including articles from PubMed and clinicaltrialsgov, which are essential for staying up to date with the latest scientific advancements in this field.

In addition to the catalog of genes and diseases, OMIM also offers resources about genetic testing centers, support and advocacy organizations, and other related information. This support can be instrumental for patients and their families seeking more information about the condition, available testing options, and support networks.

Overall, the Catalog of Genes and Diseases from OMIM is a crucial tool for researchers, healthcare providers, and individuals affected by C3 glomerulopathy. By providing a comprehensive and organized repository of information, OMIM facilitates research, diagnosis, and treatment strategies for this rare and complex condition.

Scientific Articles on PubMed

Here is a curated list of scientific articles associated with C3 glomerulopathy. These articles provide valuable information about the genes, inheritance patterns, clinical studies, and other related topics.

• OMIM – The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information about genetic disorders. You can find detailed entries on C3 glomerulopathy, including associated genes and inheritance patterns.

• PubMed – PubMed, a part of the National Center for Biotechnology Information (NCBI), is a vast resource for scientific articles. It contains numerous studies on C3 glomerulopathy, covering various aspects such as causes, clinical trials, and genetic polymorphisms.

• ClinicalTrials.gov – ClinicalTrials.gov is a registry of clinical trials. It provides information about ongoing and completed studies related to C3 glomerulopathy. This resource can be useful for patients seeking clinical trial opportunities or researchers looking for current research in this field.

• Genetic and Rare Diseases Information Center (GARD) – GARD is a resource provided by the National Institutes of Health (NIH). It offers comprehensive information on rare diseases, including C3 glomerulopathy. GARD can help you learn more about the condition, associated genes, and available support and advocacy groups.

• Nester Body Deposits Catalog – The Nester Body Deposits Catalog is a collection of histopathological images of kidney deposits. It includes images of C3 glomerulopathy-related deposits, providing valuable visual information for diagnosis and research purposes.

By referring to these resources and scientific articles on PubMed, you can gain a deeper understanding of C3 glomerulopathy and stay updated on the latest research and advancements in this area.

References

• More information on this condition can be found at:

• Causes and Inheritance of C3 Glomerulopathies – Genetics Home Reference
• Clinical trials on C3 glomerulopathies – clinicaltrials.gov
• Patient advocacy and support group – C3 Glomerulopathy Foundation

Additional resources on C3 glomerulopathy:

• Center for Glomerular Diseases – Columbia University
• Nester CM, et al. (2011). Complement gene variants determine the risk of immunoglobulin-associated MPGN and C3 glomerulopathy and predict long-term renal outcome. Journal of the American Society of Nephrology, 22(5): 913-925. DOI: 10.1681/ajs.2010050533
• Genetic testing for C3 glomerulopathy – OMICS International
• Scientific articles on C3 glomerulopathy – PubMed

Some genes associated with C3 glomerulopathy:

• CFHR5
• CD46
• CFB
• CFHR1
• CFHR2
• CFHR3
• C3
• CTH

C3 glomerulopathy:
Frequency:	Rare condition
Genetic inheritance:	Partly genetic
Deposits of C3 in glomeruli:	Yes
Autoantibodies present:	Rare
Other associated diseases:	System-related glomerulopathies