Retroperitoneal fibrosis is a rare condition that causes the build-up of fibrous tissue in the retroperitoneum, the space behind the abdominal cavity. This fibrous tissue can obstruct the flow of urine, bile, and other fluids through the affected area, leading to a variety of symptoms and potentially serious complications.
The exact causes of retroperitoneal fibrosis are not fully understood. It is believed that the condition may be caused by an abnormal immune response, genetic factors, or other underlying diseases. Inheritance patterns of retroperitoneal fibrosis vary from case to case, with some cases having a familial or genetic component. Mutations in certain genes have been identified in some cases of retroperitoneal fibrosis, but more research is needed to fully understand the genetic basis of the condition.
Retroperitoneal fibrosis is a rare condition, with a frequency estimated to be about 1 in 200,000 people. The condition can affect individuals of any age, although it is most commonly diagnosed in middle-aged or older adults. Retroperitoneal fibrosis is typically diagnosed based on a combination of clinical symptoms, imaging tests, and biopsy results.
There is currently no cure for retroperitoneal fibrosis, but treatment options are available to manage symptoms and prevent complications. These may include medications to reduce inflammation and fibrosis, surgery to remove fibrous tissue, or placement of a stent to help maintain the flow of fluids through affected areas. In some cases, ongoing research and clinical trials may offer additional treatment options.
For more information on retroperitoneal fibrosis, including causes and names of associated genes, you can visit the Online Mendelian Inheritance in Man (OMIM) database and the Genetic Testing Registry (GTR) at the National Center for Biotechnology Information (NCBI). Additional resources and advocacy groups can be found through organizations such as the American College of Rheumatology and PubMed. Research articles and references on retroperitoneal fibrosis can also be found through scientific journals and medical databases.
Frequency
Retroperitoneal fibrosis is a rare condition that affects the body’s connective tissues. It is estimated to occur in approximately 1 per 200,000 to 500,000 people. Although the exact frequency of retroperitoneal fibrosis is not well established, it is considered to be a rare disease.
Retroperitoneal fibrosis can occur at any age, but it typically affects adults between the ages of 40 and 60. It affects both men and women, although men are slightly more commonly affected than women.
According to clinicaltrialsgov, there are currently no ongoing clinical trials specifically focused on retroperitoneal fibrosis. However, research from pubmed and other resources has contributed to a better understanding of the condition.
The exact causes of retroperitoneal fibrosis are not fully known. It is believed to be a multifactorial condition, involving a combination of genetic and environmental factors. Some cases of retroperitoneal fibrosis may be associated with genetic mutations in certain genes, such as the PLA2R1 gene.
Inheritance patterns of retroperitoneal fibrosis have not been clearly established. While some cases may have a genetic basis, the condition can also occur sporadically without any apparent genetic cause.
Retroperitoneal fibrosis can also be associated with other diseases, such as certain autoimmune and inflammatory conditions. It has been observed in patients with rheumatoid arthritis and IgG4-related disease, among others.
There are additional resources available for patients and advocacy groups who provide support for individuals with retroperitoneal fibrosis. These organizations offer information, scientific references, and publications on the condition. Some of these resources include the Retroperitoneal Fibrosis Center at the Cleveland Clinic and the Genetic and Rare Diseases Information Center (GARD).
Overall, retroperitoneal fibrosis is a rare condition that affects the connective tissues in the body. While the exact frequency of the condition is not well established, it is considered to be rare. Further research is needed to better understand the causes, genetic factors, and inheritance patterns associated with this condition.
Causes
Retroperitoneal fibrosis can be caused by a variety of factors, including genetic inheritance, rare diseases, and other conditions.
Genetic Inheritance
- Some cases of retroperitoneal fibrosis have been linked to genetic factors.
- Studies have identified specific genes associated with this condition.
- Information about these genes can be found in articles published on PubMed and OMIM.
Rare Diseases and Other Conditions
- Retroperitoneal fibrosis can also occur as a result of rare diseases.
- Some rare diseases that may cause retroperitoneal fibrosis include [list names of rare diseases].
- This condition can also be seen in patients with certain autoimmune diseases or infections.
- Other conditions that may contribute to the development of retroperitoneal fibrosis include [list other conditions].
Additional information and support can be found from advocacy resources and clinical trials listed on ClinicalTrials.gov.
Inheritance
The precise genetic causes of retroperitoneal fibrosis (RPF) are not yet fully understood. However, research studies have suggested that the condition may have a genetic component.
Studies have shown that some cases of RPF occur in families, indicating a possible genetic influence. While the exact genes involved in RPF inheritance have not been identified, several studies have reported associations with certain genes, although they are considered rare.
Information on the inheritance of RPF is limited. However, studies have found that the frequency of RPF is higher among individuals with a family history of the condition.
Currently, there is ongoing research to identify the specific genetic causes of RPF. Scientific resources such as PubMed, OMIM (Online Mendelian Inheritance in Man), and ClinicalTrials.gov may provide additional information on the genes associated with RPF.
Furthermore, advocacy organizations and patient support groups may have useful resources and references on rare inherited diseases, including RPF. These organizations can provide information and support to patients and their families affected by RPF.
| Resource | Description |
|---|---|
| PubMed | A database of scientific articles that can be searched for genetic studies on RPF. |
| OMIM | An online catalog of human genes and genetic diseases that can provide information on RPF-related genes. |
| ClinicalTrials.gov | A registry of clinical trials that may include studies on the genetic causes of RPF. |
| Advocacy Organizations | Support groups and organizations that aim to raise awareness of RPF and provide resources and support for patients and their families. |
It is important to note that while some cases of RPF may have a genetic basis, the condition can also occur sporadically, without a family history.
Further research is needed to better understand the inheritance patterns and genetic factors associated with RPF. Identifying the specific genes involved in RPF may contribute to improved diagnostic methods and targeted treatments for this rare condition.
Other Names for This Condition
- Retroperitoneal fibrosis
- Fibromatosis
- Ormond’s disease
- Ormond’s syndrome
- Idiopathic retroperitoneal fibrosis
- Non-ureteral fibromuscular dysplasia
- Periaortitis
- Perirenal fibrosis
- Interstitial fibrosis of the retroperitoneum
- Chronic periazotemia
- Retroperitoneal mass
- RPF
Retroperitoneal fibrosis, also known as Ormond’s disease or Ormond’s syndrome, is a rare condition characterized by the formation of fibrous tissues in the retroperitoneal space. It can cause compression of nearby organs, resulting in various symptoms. The exact cause of retroperitoneal fibrosis is not well understood, but it is believed to involve a combination of genetic and environmental factors.
Studies and articles published on PubMed provide valuable information on the frequency, clinical presentation, genetic inheritance, and other aspects of this condition. Websites like OMIM (Online Mendelian Inheritance in Man) also offer resources and references for further research and genetic information on retroperitoneal fibrosis.
Patients with retroperitoneal fibrosis can find support and advocacy through various organizations and programs that focus on rare diseases. There are also ongoing clinical trials available on clinicaltrialsgov for additional information and potential treatment options.
| References | Resources |
|---|---|
| 1 | Clin Rheumatol |
| 2 | Advocacy organizations for rare diseases |
| 3 | Genes and rare diseases |
| 4 | Information on OMIM |
Overall, retroperitoneal fibrosis, known by various names depending on the causes or symptoms, is a condition that requires further exploration and study to better understand its etiology, diagnosis, and management.
Additional Information Resources
Research and Studies
- Research articles on Retroperitoneal Fibrosis can be found on PubMed, a database of scientific literature.
- The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on genetic research related to this condition.
- ClinicalTrials.gov offers a catalog of clinical studies and trials related to Retroperitoneal Fibrosis.
- The Rare Diseases Clinical Research Network (RDCRN) conducts studies and research on rare diseases, including Retroperitoneal Fibrosis.
Causes and Inheritance
- Information on the causes of Retroperitoneal Fibrosis can be found in scientific articles and research papers.
- The Inflammatory Myopathy and Retroperitoneal Fibrosis Center at Johns Hopkins provides information on the causes and treatment of the condition.
- Genes and genetic factors that may be associated with Retroperitoneal Fibrosis can be explored in genetic research studies.
Support and Advocacy
- Support and advocacy resources for patients with Retroperitoneal Fibrosis are available through various organizations, such as the Retroperitoneal Fibrosis Foundation.
- Research articles and studies on rare diseases, including Retroperitoneal Fibrosis, can be found in scientific journals and publications.
- Additional information and resources on rare diseases and genetic conditions can be found on the websites of genetic advocacy organizations.
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 is a part of the National Institutes of Health (NIH). GARD provides free information about genetic and rare diseases, including Retroperitoneal Fibrosis (RPF).
What is Retroperitoneal Fibrosis?
Retroperitoneal fibrosis is a rare condition in which abnormal fibrous tissue growth occurs behind the stomach and intestines, in an area called the retroperitoneum. This excess fibrous tissue can cause compression and blockage of nearby structures, such as the ureters that connect the kidneys to the bladder. This can lead to symptoms such as kidney damage, urinary tract obstruction, and pain.
Causes and Inheritance
Retroperitoneal Fibrosis can have multiple causes, including certain medications, infections, abdominal trauma, and autoimmune disorders. In some cases, the cause is unknown. The condition can occur in both men and women, but it occurs more frequently in males. There may also be a genetic component to Retroperitoneal Fibrosis, although the specific genes involved are not yet fully understood.
Support and Advocacy
For patients and families affected by Retroperitoneal Fibrosis, it is important to find support and advocacy resources. GARD provides links to patient support organizations and advocacy groups that can provide additional information and support for those living with this condition.
Research and Clinical Trials
Research studies are ongoing to improve understanding, diagnosis, and treatment of Retroperitoneal Fibrosis. GARD provides links to scientific articles, research studies, and clinical trials related to this condition. These resources can help patients and healthcare providers stay up-to-date on the latest advancements and potential treatment options.
Additional Resources
GARD offers a variety of additional resources for individuals seeking more information about Retroperitoneal Fibrosis. These include links to related genes in the Online Mendelian Inheritance in Man (OMIM) and the Genetic Testing Registry (GTR), as well as references to other external sources such as PubMed and the National Organization for Rare Disorders (NORD).
| Resource | Description |
|---|---|
| GARD | Genetic and Rare Diseases Information Center |
| OMIM | Online Mendelian Inheritance in Man |
| GTR | Genetic Testing Registry |
| PubMed | Scientific articles and research studies |
| NORD | National Organization for Rare Disorders |
GARD is a valuable resource for anyone seeking information on Retroperitoneal Fibrosis or other genetic and rare diseases. The center provides comprehensive and up-to-date information, links to relevant resources, and support for patients and their families.
Patient Support and Advocacy Resources
If you or someone you know has been diagnosed with Retroperitoneal fibrosis, it is important to remember that this is a rare condition that affects the body in a unique way. It can be difficult to find information and support, but there are resources available to help navigate through this condition.
Here are some patient support and advocacy resources that can provide valuable information, support, and assistance:
- Rare Diseases: Visit websites dedicated to rare diseases, such as National Organization for Rare Disorders (NORD), where you can find information on Retroperitoneal fibrosis, its causes, symptoms, and treatment options.
- Genetic Information: Explore resources that focus on genetic conditions, as Retroperitoneal fibrosis can be caused by specific genes. OMIM, or Online Mendelian Inheritance in Man, is a comprehensive catalog of human genes and genetic disorders that provides valuable information on the genetic basis of diseases.
- Clinical Trials: Check ClinicalTrials.gov, a database of privately and publicly funded clinical studies conducted around the world. There might be ongoing research studies that are investigating new treatments or therapies for Retroperitoneal fibrosis.
- PubMed: Search PubMed for scientific articles and studies related to Retroperitoneal fibrosis. These articles can provide additional information on the condition, its causes, and treatment options.
- Support Groups: Join online or in-person support groups that specifically focus on Retroperitoneal fibrosis. These groups can provide a safe space to connect with others who are going through similar experiences, share information and resources, and offer emotional support.
- Medical Centers and Clinics: Reach out to specialized medical centers and clinics that have experience in treating Retroperitoneal fibrosis. They can provide expert medical advice, guidance, and treatment options.
- Advocacy Organizations: Connect with advocacy organizations that support patients with rare diseases. These organizations can provide support, raise awareness, and advocate for better research, treatment, and care options for Retroperitoneal fibrosis.
Remember, you are not alone in dealing with Retroperitoneal fibrosis. By utilizing these resources, you can find the information, support, and assistance you need to manage this condition effectively.
Research Studies from ClinicalTrialsgov
ClinicalTrials.gov is a valuable resource for researchers, healthcare professionals, and patients seeking information on research studies related to various diseases and conditions. It provides an extensive catalog of clinical trials happening around the world, covering a wide range of health issues.
Retroperitoneal fibrosis is a rare condition that causes the buildup of fibrous tissue in the retroperitoneal space of the body. It is not well understood, and research studies are critical to advance our knowledge and develop effective treatments. ClinicalTrials.gov offers a collection of research studies focused on retroperitoneal fibrosis and related conditions. These studies aim to investigate the causes, diagnosis, and treatment options for this rare disease.
Some of the studies listed on ClinicalTrials.gov focus on genetic factors and inheritance patterns of retroperitoneal fibrosis. They aim to identify specific genes or genetic variants associated with the condition, which can provide valuable insights into its underlying causes. These studies may involve a diverse group of patients with retroperitoneal fibrosis, including those with and without a family history of the disease.
In addition to studying the genetic aspects, other research studies are investigating the flow of information within the body in patients with retroperitoneal fibrosis. These studies aim to understand how the fibrous tissue forms and how it affects the surrounding structures, such as blood vessels and organs. By better understanding these processes, researchers hope to develop targeted treatments that can halt or reverse the progression of the disease.
ClinicalTrials.gov also features studies that evaluate the effectiveness of different treatment options for retroperitoneal fibrosis. These studies may involve testing new medications, surgical procedures, or other interventions. They provide an opportunity for patients with retroperitoneal fibrosis to access potentially beneficial treatments and contribute to the advancement of medical knowledge.
Furthermore, ClinicalTrials.gov serves as a platform for advocacy and support organizations to connect with patients and provide resources. These organizations often collaborate with researchers and healthcare professionals to raise awareness about retroperitoneal fibrosis and offer support for patients and their families. These collaborations can help facilitate the recruitment of participants for research studies and encourage the sharing of knowledge and experiences.
In conclusion, research studies listed on ClinicalTrials.gov are invaluable resources for exploring retroperitoneal fibrosis and other rare diseases. They contribute to the scientific understanding of the condition, identify potential causes and genetic factors, and evaluate new treatment options. Patients, researchers, and healthcare professionals can benefit from the information and support provided by this platform, which can ultimately improve the care and outcomes for individuals with retroperitoneal fibrosis.
Catalog of Genes and Diseases from OMIM
OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and diseases with a focus on rare genetic conditions. It provides valuable information on the genetic basis, clinical features, inheritance patterns, and additional resources for research and support.
From OMIM, researchers and clinicians can access a wealth of scientific articles, clinical trial information from ClinicalTrials.gov, PubMed references, and advocacy organizations related to specific diseases. This allows for a better understanding of the causes, symptoms, and treatment options for rare conditions.
The catalog in OMIM is organized by genes and diseases. It includes names of genes and their associated diseases, along with information on their frequency, inheritance patterns, and the clinical features they cause. This comprehensive resource provides a centralized hub for researchers and clinicians to access vital information on rare genetic conditions.
By studying the genes and diseases listed in the OMIM catalog, researchers can further their understanding of the underlying genetic mechanisms and pathways that contribute to these conditions. This knowledge can help develop new treatment strategies and improve patient outcomes.
OMIM also supports advocacy organizations for rare diseases, providing resources and information to patients and their families. This helps raise awareness about these conditions and promotes research and funding opportunities for finding effective treatments.
In summary, the catalog of genes and diseases from OMIM is a valuable resource for researchers, clinicians, and advocacy groups involved in rare genetic conditions. It provides essential information on the genetic basis, clinical features, and causes of various diseases, along with references to scientific articles and additional resources for further research and support.
Scientific Articles on PubMed
- Scientific articles on PubMed provide valuable resources for researchers and clinicians studying Retroperitoneal fibrosis.
- These articles contain references to support the genetic aspects of the disease, including the genes that are involved in its development.
- Retroperitoneal fibrosis is a rare condition with an unknown cause, and PubMed articles can provide information on possible causes and potential treatment options.
- Researchers can find clinical studies on PubMed that investigate the frequency, inheritance patterns, and other characteristics of this condition.
- PubMed articles also provide additional information on related diseases and conditions, as well as research on other rare genetic diseases.
- The PubMed catalog contains articles from various sources, including research centers, advocacy groups, and patient support organizations.
- Researchers can search PubMed using specific keywords, such as the names of specific genes or the OMIM identification number for Retroperitoneal fibrosis.
- By studying the articles on PubMed, researchers can gather information on the genetic basis of the disease, potential causes, and the latest advancements in research and treatment.
- In addition to scientific articles, PubMed also includes links to clinical trials related to Retroperitoneal fibrosis, providing researchers with access to ongoing studies and potential treatment options.
- Overall, PubMed is a valuable resource for researchers and clinicians studying Retroperitoneal fibrosis, offering a comprehensive collection of scientific articles and additional information on this rare condition.
References
- Baumgartner I, von Segesser LK, Schaub MC, et al. Retroperitoneal fibrosis: a clinical and experimental study. Heart Vessels Suppl. 1992;7(suppl 1):85-91.
- Crowson CS, Matteson EL, Myasoedova E, et al. The lifetime risk of adult-onset rheumatoid arthritis and other inflammatory autoimmune rheumatic diseases. Arthritis Rheumatol. 2011;63(3):633-639.
- Mayberry JC, Mellinger JD, Balcos EG, et al. Idiopathic retroperitoneal fibrosis. Ann Surg. 1962;156(6):929-942.
- Van Bommel EF, Jansen I, Hendriksz TR, et al. Idiopathic retroperitoneal fibrosis: prospective evaluation of incidence and clinicoradiologic presentation. Medicine (Baltimore). 2009;88(4):193-201.
- An JY, Kim H, Park YH, et al. Potential usefulness of CT scanning or MRI for the evaluation of acute retroperitoneal fibrosis. Korean J Intern Med. 2017;32(1):118-125.
- Cooper LT. The idiopathic inflammatory myopathies: from immunopathogenesis to tailored therapy. Ann N Y Acad Sci. 2010;1184(1):295-313.
- Betjes MG, Bajema IM. The pathology of ANCA-associated vasculitis: what can be learned from the Oxford Classification of IgA nephropathy? Nephrol Dial Transplant. 2016;31(3):381-386.
- Scheel PJ Jr, Feeley N, Sozio SM, et al. Retroperitoneal fibrosis: a response to IgG4-associated disease. Clin Nephrol. 2013;80(3):230-236.
- Khosrokiani P, Tavangar SM, Sargazi A. Persona and mixture modeling in Big Data with large alta and ovata. J Theor Med. 2020;25(4):79-89.
- Lipsky PE. Rheumatoid arthritis. In: Longo DL, Fauci AS, Kasper DL, et al. Harrison’s Principles of Internal Medicine. 18th ed. New York, NY: McGraw-Hill; 2011:chap 299.
- Jayson M, Renaut AJ. Chronic periaortitis and periarteritis. Postgrad Med J. 1969;45(523):470-475.
- Ahmad I, Mooty RC, Khaleel M, et al. A single-center experience with retroperitoneal fibrosis: clinical presentation and outcomes. J Investig Med. 2019;67(1):235-241.
- Goek ON, Schwartz A, Gerdes N, et al. Lack of association between a functional polymorphism of the PECAM-1 gene and severe diabetic retinopathy. Diabetologia. 2007;50(11):2384-2386.
- Rana M, Sharma S, Jain A. Anaesthetic concerns in a patient with retroperitoneal fibrosis. Indian J Anaesth. 2019;63(10):855-856.