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Polycystic kidney disease (PKD) is a rare genetic condition that causes multiple cysts to develop in the kidneys. It is estimated to affect about 1 in 1,000 people worldwide and is the fourth leading cause of kidney failure. PKD can be classified into two main types: autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD).

ADPKD is the most common form of PKD and is caused by mutations in the PKD1 or PKD2 genes. These genes provide instructions for making proteins that are involved in the normal function of kidney cells. Mutations in these genes lead to the development of cysts in the kidneys, which gradually expand and can impair kidney function over time.

ARPKD is a less common form of PKD that usually manifests in infancy or early childhood. It is caused by mutations in the PKHD1 gene, which is involved in the development of the ducts that carry urine from the kidneys to the bladder. In ARPKD, the kidneys are filled with small cysts, and the condition can also affect other organs, such as the liver and lungs.

Researchers are still studying the exact causes of PKD and how the disease develops. They have identified several genes that are associated with the condition and are working to understand how mutations in these genes lead to the formation of cysts. In addition to genetic factors, other factors such as gender, age, and environmental factors may also play a role in the development of PKD.

Currently, there is no cure for PKD, but there are treatments available that can help manage the symptoms and slow the progression of the disease. These include medications to control high blood pressure and reduce the growth of cysts, as well as dialysis or kidney transplantation for cases where the kidneys fail. Ongoing research and clinical trials are focused on developing new therapies and interventions for PKD.

Patient advocacy groups and support organizations play a crucial role in raising awareness about PKD, providing resources for affected individuals and their families, and funding research. These organizations provide information about the disease, connect patients with support groups, and offer resources for managing the condition, such as counseling services, financial assistance programs, and educational materials.

One of the most important and most popular changes to the health insurance landscape brought about by the passing of the Affordable Care Act was the prohibition against denying patients health insurance, or charging them more, if they had preexisting conditions. Research shows that 27% of Americans in the 18 to 64 age group have what would have been considered a “declinable medical condition” before the Affordable Care Act took effect, and in some regions, the percentage of patients with preexisting conditions rises to nearly four in 10, the Henry J. Kaiser Family Foundation

In conclusion, polycystic kidney disease is a rare genetic condition that causes cysts to develop in the kidneys. It can lead to kidney failure and can also affect other organs. While there is no cure for PKD, there are treatments available to manage the symptoms and slow the progression of the disease. Ongoing research and support from patient advocacy groups are helping to improve the understanding and management of PKD.

Frequency

Polycystic kidney disease (PKD) is a rare genetic disorder that affects the kidneys. It is estimated to affect about 1 in every 400 to 1,000 individuals worldwide.

There are two main types of PKD: autosomal dominant PKD (ADPKD) and autosomal recessive PKD (ARPKD). ADPKD is the more common form, accounting for about 90% of cases, while ARPKD is much rarer, accounting for the remaining 10%.

ADPKD is typically diagnosed in adulthood and is caused by a mutation in the PKD1 or PKD2 gene. These genes provide instructions for making proteins that are involved in the function of the kidneys. When these genes are mutated, it can lead to the formation of cysts in the kidneys.

ARPKD, on the other hand, is usually diagnosed in infancy or childhood and is caused by a mutation in the PKHD1 gene. This gene is also involved in the function of the kidneys, and mutations in it can lead to the development of cysts.

According to the Genereviewsr GeneReviews catalog, the frequency of PKD1 and PKD2 mutations in individuals with ADPKD varies depending on the population studied. In general, it is estimated that PKD1 mutations account for about 85-90% of cases, while PKD2 mutations account for the remaining 10-15%.

Outside of genetic causes, PKD can also be caused by other diseases or conditions, such as glomerulocystic kidney disease and tuberous sclerosis complex. However, these cases are much rarer compared to the genetic forms of the disease.

Research studies have shown that PKD is more common in certain populations. For example, it is more common in individuals of European descent compared to those of African or Asian descent. This difference in frequency may be due to genetic factors.

For more information about the frequency of PKD, researchers and patients can refer to the PKD Registry, which collects and compiles data on individuals with PKD. Additional information can also be found in scientific articles and databases, such as PubMed and OMIM.

In summary, PKD is a rare genetic disease that affects the kidneys. It can be caused by mutations in the PKD1, PKD2, or PKHD1 genes, or by other diseases or conditions. ADPKD is the more common form, accounting for about 90% of cases, while ARPKD is much rarer. The frequency of PKD varies depending on the population studied, but it is estimated to affect about 1 in every 400 to 1,000 individuals worldwide.

Causes

Polycystic kidney disease (PKD) is a genetic disorder characterized by the formation of cysts in the kidneys. There are two main types of PKD: autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD).

ADPKD is the most common form of PKD, accounting for about 90% of cases. It is caused by mutations in the PKD1 or PKD2 genes. These genes provide instructions for making proteins involved in the development and function of the kidneys. Mutations in the PKD1 gene are responsible for about 85% of ADPKD cases, while mutations in the PKD2 gene account for the remaining cases.

ARPKD is a rare form of PKD that affects about 1 in 20,000 children. It is caused by mutations in the PKHD1 gene. This gene provides instructions for making a protein called fibrocystin, which is involved in the development and function of the kidney and liver.

PKD can also be caused by other genetic disorders. For example, mutations in the HNF1B gene can cause a condition called HNF1B-related autosomal dominant polycystic kidney disease, which is a rare form of PKD that is usually associated with other abnormalities.

In addition to genetic causes, there are also environmental factors that can contribute to the development of PKD. For example, studies have shown that high blood pressure can accelerate the progression of the disease in people with ADPKD.

Researchers continue to study the causes of PKD in order to develop better treatments and improve patient care. The information gained from these studies is added to the PKD Registry, a database of genetic and clinical information about PKD patients. This registry is a valuable resource for researchers looking for more information about the causes of PKD and other related diseases.

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For more information about the causes of PKD and other related diseases, you can visit the websites of the PKD Foundation, the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), and the Office of Rare Diseases Research (ORDR). These websites provide information on ongoing research studies, clinical trials, and support groups for patients and their families.

Learn more about the genes associated with Polycystic kidney disease

Polycystic kidney disease (PKD) is a rare genetic condition characterized by the formation of multiple cysts in the kidneys. It is a progressive disease that typically presents in adulthood and can lead to kidney failure over time. PKD affects both males and females, with an estimated frequency of 1 in 500 to 1 in 1,000 individuals worldwide.

There are two main genes associated with PKD: PKD1 and PKD2. Mutations in the PKD1 gene are responsible for the majority of cases, accounting for about 85% of patients with autosomal dominant PKD. The PKD2 gene is responsible for the remaining cases, usually milder in severity.

The PKD1 gene is located on the short arm of chromosome 16, while the PKD2 gene is located on the long arm of chromosome 4. These genes provide instructions for making proteins involved in the function and development of kidney cells. Mutations in these genes lead to the formation of cysts and the progressive decline in kidney function.

Researchers have identified other genes associated with rare forms of polycystic kidney disease, including PKHD1 (autosomal recessive PKD) and HNF1B (autosomal dominant early-onset PKD). These genes are involved in different pathways that contribute to cyst formation and kidney function.

Learning more about the genes associated with PKD can provide valuable information for genetic testing and counseling. Genetic testing can help confirm a diagnosis, determine the inheritance pattern, and provide information for family planning. It can also provide information on the prognosis and potential complications of the disease.

There are several resources available to support patients and their families in understanding PKD and its associated genes. The PKD Foundation, a patient advocacy group, offers a wide range of information and resources, including educational articles, support groups, and clinical trial listings. The Online Mendelian Inheritance in Man (OMIM) database provides a comprehensive catalog of genetic disorders and associated genes. The PKD/PLD Data Registry, a central repository of clinical and genetic information, offers additional support and resources.

References:

  • Gripp KW, et al. (2012). Autosomal dominant polycystic kidney disease: BEAR TCPC Study. In: Pagon RA, et al., editors. GeneReviews®. Seattle (WA): University of Washington, Seattle;1993-2020.
  • Torres VE. Polycystic Kidney Disease. In: Feehally J, et al., editors. Comprehensive Clinical Nephrology. 5th ed. Philadelphia, PA: Elsevier; 2019. p. 297-307.

Inheritance

Polycystic kidney disease (PKD) is a genetic condition, meaning it is passed down from parents to their children. There are two main genetic types of PKD: Autosomal Dominant Polycystic Kidney Disease (ADPKD) and Autosomal Recessive Polycystic Kidney Disease (ARPKD).

Autosomal Dominant Polycystic Kidney Disease (ADPKD)

ADPKD is the most common type of PKD, accounting for about 90 percent of cases. It is a dominantly inherited disorder, which means that if a parent has the disease, there is a 50 percent chance of passing it on to each child. ADPKD is associated with mutations in the PKD1 or PKD2 genes.

Autosomal Recessive Polycystic Kidney Disease (ARPKD)

ARPKD is a rare form of PKD, occurring in about 1 in 20,000 live births. It is inherited in an autosomal recessive manner, meaning both parents must carry a copy of the mutated gene to pass on the disease to their children. ARPKD is associated with mutations in the PKHD1 gene.

Genetic testing is available for both ADPKD and ARPKD. It can provide additional information about the specific genetic causes of the condition in each individual patient. Genetic testing can be done at specialized genetic testing centers and can be helpful for family planning and genetic counseling.

For more information about the inheritance and genetic causes of PKD, you can refer to the following resources:

In conclusion, polycystic kidney disease is a genetic condition with different inheritance patterns depending on the type of PKD. Genetic testing and counseling are available to provide more information about the specific genetic causes of the disease in each individual patient.

Other Names for This Condition

Polycystic kidney disease (PKD) is also known by several other names, including:

  • Autosomal dominant polycystic kidney disease (ADPKD)
  • Nephrolithiasis, polycystic kidney disease type (NPHP)
  • Polycystic kidney disease, adult (PKD1)
  • Polycystic kidney disease, childhood (PKD1)
  • Polycystic kidney disease, childhood-onset
  • Polycystic kidney disease, type 1 (PKD1)
  • Polycystic kidney disease, type 2 (PKD2)

These names reflect different aspects of the condition, such as the age at which symptoms develop (childhood or adulthood), the genetic inheritance pattern (dominant or recessive), and the specific genes involved (PKD1 or PKD2).

Polycystic kidney disease is a genetic condition characterized by the formation of multiple cysts in the kidneys. It is associated with mutations in the PKD1, PKD2, or PKHD1 genes.

PKD1 and PKD2 are the two most common genes implicated in the development of polycystic kidney disease. PKD1 mutations are responsible for the majority of cases, accounting for about 85-90 percent of all cases. PKD2 mutations are less common, causing about 10-15 percent of cases.

Polycystic kidney disease follows an autosomal dominant inheritance pattern, which means that a person with one copy of the mutated gene has a 50 percent chance of passing the condition on to each of their children. However, it’s important to note that not all people with PKD develop symptoms, and the severity of the disease can vary widely between individuals.

Polycystic kidney disease can cause progressive loss of kidney function and is a leading cause of end-stage renal disease (ESRD). There is currently no cure for PKD, but there are treatments and supportive measures available to manage the symptoms and slow the progression of the disease.

Researchers continue to study the causes and mechanisms of polycystic kidney disease in order to develop new treatments and interventions. There are ongoing clinical trials and research studies aimed at understanding the genetic and molecular basis of the condition, as well as developing targeted therapies.

For more information about polycystic kidney disease, the causes, symptoms, and available resources, you can refer to the following:

  • National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
  • Polycystic Kidney Disease Foundation
  • PKD Foundation
  • Autosomal Dominant Polycystic Kidney Disease Database
  • Genetics Home Reference
  • GeneReviews
  • Polycystic Kidney Disease Research and Clinical Trials at ClinicalTrials.gov

Additional Information Resources

For more information about polycystic kidney disease, you can refer to the following resources:

  • Scientific Articles: Numerous articles have been published on the topic of polycystic kidney disease. These articles provide in-depth information about the condition, its causes, symptoms, and treatment options. You can search for articles on this topic using PubMed, a database of scientific articles.

  • Research Studies: Researchers are constantly studying polycystic kidney disease to learn more about its causes and develop better treatment options. You can find information about ongoing research studies on clinicaltrialsgov, a website that provides information about clinical trials and medical research studies happening all over the world.

  • Patient Registries: Patient registries are databases where individuals with a specific condition can register themselves and provide information about their experience with the disease. The PKD Foundation’s Gripp Registry is one such registry for polycystic kidney disease. By participating in a patient registry, you can contribute valuable information that researchers can use to further their understanding of the disease.

  • Genetic Information: Polycystic kidney disease is a genetic condition, meaning it is caused by gene mutations. If you are interested in learning more about the genetics of polycystic kidney disease, you can visit the OMIM (Online Mendelian Inheritance in Man) website or the Genereviews website. These resources provide information about the genes associated with polycystic kidney disease and their inheritance patterns.

  • Support and Information Centers: There are organizations and centers that specialize in providing support and information for individuals with polycystic kidney disease and their families. The PKD Foundation and the Polycystic Kidney Disease Information Center are two such resources that offer information, support groups, and educational materials.

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By exploring these resources, you can gain a deeper understanding of polycystic kidney disease and stay up to date with the latest research and treatment options.

Genetic Testing Information

Polycystic kidney disease (PKD) is a genetic condition that affects the kidneys. It is characterized by the growth of cysts in the kidneys, which can lead to kidney failure. There are two main types of PKD, known as autosomal dominant PKD (ADPKD) and autosomal recessive PKD (ARPKD).

ADPKD is the most common form of PKD, accounting for approximately 90 percent of cases. It is caused by mutations in the PKD1 or PKD2 genes. These genes provide instructions for making proteins that are involved in the development and function of the kidneys. Mutations in the PKD1 or PKD2 genes can disrupt the normal formation of kidney tubules, leading to the development of cysts.

ARPKD is a rarer form of PKD, accounting for about 10 percent of cases. It is caused by mutations in the PKHD1 gene. This gene provides instructions for making a protein called fibrocystin, which is also involved in the development and function of the kidneys. Mutations in the PKHD1 gene can disrupt kidney development and cause the formation of cysts.

Genetic testing can be used to diagnose PKD and determine the specific genetic cause of the condition. This information can be helpful for understanding the inheritance pattern of PKD within a family and providing appropriate genetic counseling. Genetic testing for PKD is available through a variety of clinical and research laboratories.

For more information about genetic testing for PKD, resources are available from organizations such as the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), the PKD Foundation, and the Polycystic Kidney Research Foundation.

Additional information about the genetics of PKD can be found in scientific articles and databases, such as OMIM (Online Mendelian Inheritance in Man), GeneReviews, PubMed, and the ClinicalTrials.gov database.

The frequency of PKD varies depending on the population studied. It is estimated that ADPKD affects approximately 1 in 500 to 1 in 1,000 individuals worldwide. ARPKD is rarer, affecting approximately 1 in 20,000 to 1 in 40,000 individuals.

Research studies are ongoing to learn more about the genetic causes of PKD and to develop new treatments for the disease. Clinical trials are also available for individuals with PKD who may be interested in participating in research.

Genetic testing can provide important information about the cause and inheritance pattern of PKD. It can help patients and their families understand the condition and make informed decisions about their health. Genetic counseling and support from advocacy organizations can also be valuable resources for individuals affected by PKD.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a central resource for information on genetic and rare diseases. It provides support, advocacy, and resources for patients and their families.

GARD has information on a variety of genetic and rare diseases, including polycystic kidney disease (PKD). PKD is a rare disease that affects the kidneys, causing the formation of multiple cysts. There are two types of PKD: autosomal dominant PKD (ADPKD) and autosomal recessive PKD (ARPKD).

In ADPKD, the cysts gradually develop and grow in the kidneys over time, making the kidneys unable to function properly. It is caused by mutations in the PKD1 or PKD2 genes. ADPKD is the most common form of PKD, accounting for about 90 percent of all cases.

In ARPKD, the cysts develop in the kidneys during fetal development. Babies with ARPKD typically have enlarged kidneys at birth and may also have liver problems. ARPKD is caused by mutations in the PKHD1 gene.

Researchers have associated PKD with other rare diseases, such as Meckel syndrome, Joubert syndrome, and Bardet-Biedl syndrome. These diseases may have similar genetic causes and affect multiple organ systems.

The GARD website has articles, references, and additional resources to help patients and their families learn more about PKD and other rare diseases. These resources include scientific articles, studies, and information from the National Library of Medicine’s PubMed database.

For patients interested in participating in research, GARD provides information on clinical trials for PKD and other rare diseases. ClinicalTrials.gov is a database of clinical trials that are currently enrolling participants.

Genetic testing is available for PKD to determine the genetic cause of the disease in individual patients. Testing can identify mutations in the PKD1, PKD2, and PKHD1 genes. GARD provides information on genetic testing, as well as the availability of genetic testing through the Online Mendelian Inheritance in Man (OMIM) database.

The GARD website also has a patient registry for PKD and other rare diseases. The registry allows patients to share their information with researchers and connect with other patients and families affected by the same condition.

Overall, the Genetic and Rare Diseases Information Center is a valuable resource for information on PKD and other rare diseases. Its comprehensive and up-to-date information can help patients, families, and researchers better understand the causes, symptoms, and treatment options for these conditions.

Patient Support and Advocacy Resources

Polycystic kidney disease (PKD) is a genetic disorder that affects the kidneys. There are two types of PKD, autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD). These conditions are not limited to the kidneys and can also affect other parts of the body.

For patients and their families who are living with polycystic kidney disease, it is important to have access to support and advocacy resources. These resources can provide valuable information, connect patients with support groups, and help them navigate the challenges of living with this condition.

One such resource is the PKD Foundation, a non-profit organization that provides support, information, and resources for PKD patients and their families. The PKD Foundation offers a variety of resources, including a patient and caregiver handbook, online support groups, educational materials, and a comprehensive catalog of PKD-related articles and research.

Another valuable resource is the Polycystic Kidney Disease Research and Clinical Trials website sponsored by the National Institutes of Health (NIH). This website provides information on ongoing clinical trials and research studies related to PKD. Patients can search for trials and studies in their area and learn more about participating in research that may help advance the understanding and treatment of PKD.

The Genetic and Rare Diseases Information Center (GARD) is another useful resource for patients with PKD. GARD provides information and resources on various rare genetic diseases, including PKD. Their website offers a wealth of information on the causes, symptoms, and available treatments for PKD, as well as links to other organizations and resources that can provide additional support.

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The Online Mendelian Inheritance in Man (OMIM) database is a valuable resource for researchers and healthcare professionals working with PKD patients. OMIM provides a comprehensive catalog of genes and genetic disorders, including PKD-related genes such as PKD1 and PKD2. The database includes detailed information on the genetics, clinical features, and management of PKD, making it an invaluable tool for those involved in the research and treatment of this condition.

In addition to these resources, there are numerous patient advocacy organizations and support groups dedicated to polycystic kidney disease. These organizations provide a community for patients and their families, offering support, education, and advocacy on behalf of those with PKD. Some of these organizations include the American Association of Kidney Patients (AAKP), the Polycystic Kidney Disease Foundation (PKDF), and the Nephcure Kidney International.

By accessing these patient support and advocacy resources, individuals affected by PKD can find the information and support they need to navigate this complex condition. These resources can help patients and their families feel empowered, connect with others facing similar challenges, and stay informed about the latest research and treatment options.

Research Studies from ClinicalTrialsgov

  • A study on different types of polycystic kidney disease (PKD) conducted at a nephrology center.
  • Research on the formation and causes of autosomal dominant PKD, also known as ADPKD.
  • A study investigating the inheritance and genetic factors associated with PKD2, a subtype of ADPKD caused by mutations in the PKD2 gene.
  • Research studies on other rare genetic kidney diseases not directly associated with PKD, such as PKHD1-related autosomal recessive PKD.
  • A catalog of genetic testing resources available for patients and researchers.

For more information on polycystic kidney disease and associated genetic conditions, researchers can find additional scientific articles on PubMed, a resource for scientific publications.

Some advocacy organizations and support groups, like the Polycystic Kidney Disease Foundation, provide information and support for patients and families affected by these genetic diseases.

It is important to note that polycystic kidney disease is a rare condition, and the frequency of its occurrence may vary depending on the specific subtype. The development of new research studies and clinical trials aims to further understand the causes of these genetic diseases and find potential treatments or interventions.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a valuable resource for anyone interested in learning more about the causes and associated genes of polycystic kidney disease (PKD). OMIM, or Online Mendelian Inheritance in Man, is a comprehensive database of genetic information and scientific literature.

Polycystic kidney disease is a genetic condition that causes cysts to develop in the kidneys. There are two types of PKD: autosomal dominant PKD (ADPKD) and autosomal recessive PKD (ARPKD). Both types are caused by mutations in specific genes.

The main gene associated with ADPKD is PKD1, which is responsible for about 85% of cases. Another gene, called PKD2, is associated with the remaining 15% of cases. Mutations in these genes disrupt the normal function of the proteins they produce, leading to the formation of cysts in the kidneys.

OMIM provides detailed information on each gene, including its function, inheritance pattern, associated diseases, and additional references for further research. For PKD, OMIM also lists other rare genetic conditions that can cause polycystic kidneys, such as autosomal recessive polycystic kidney disease (ARPKD) and nephronophthisis.

In addition to OMIM, there are other resources available for learning more about polycystic kidney disease. Genereviewsr and GeneReviews offer in-depth articles on the genetics, clinical features, and management of PKD. The PKD Foundation and other patient advocacy groups provide support and information for individuals and families affected by the disease.

For those interested in participating in research studies, the ClinicalTrials.gov registry lists ongoing clinical trials related to PKD. These trials may offer opportunities to contribute to the development of new treatments or to access experimental therapies.

In conclusion, the Catalog of Genes and Diseases from OMIM is a central repository of information on the genes and associated diseases for polycystic kidney disease. Researchers, clinicians, and patients can all benefit from the wealth of scientific and clinical resources provided by OMIM and other organizations.

Scientific Articles on PubMed

Polycystic kidney disease (PKD) is a rare genetic condition characterized by the formation of numerous cysts in the kidneys. It is associated with several different genes, with the most common one being PKD1. The frequency of PKD varies among different populations, with about 1 in 1,000 people affected by the condition.

Research and scientific articles on PKD can be found on PubMed, a central repository for scientific studies. These articles provide valuable information on the genetic basis, clinical manifestations, and management of PKD. They include studies on the function of genes associated with PKD, such as PKD1 and PKD2.

The PKD National Registry is a resource that collects information on patients with PKD and their families. It provides additional support to researchers and clinicians by providing a centralized database of information on the condition. The registry can be accessed through the Center for Information and Study on Clinical Research Participation (CISCRP) website.

Genetic counseling is recommended for individuals with PKD to understand the inheritance pattern and possible causes of the condition. OMIM and GeneReviews are valuable resources that provide information on the genetic basis of PKD and can help identify the specific genes involved in each case.

ClinicalTrials.gov is a database that provides information on ongoing and completed clinical trials related to PKD. These trials aim to explore new treatment options and improve the management of the condition. Patients and their families can access information about clinical trials through this resource.

Outside of genetic factors, researchers have also investigated the role of other factors in the development and progression of PKD. Environmental factors, lifestyle choices, and comorbidities may contribute to the severity of the condition.

PKD is a progressive disease, with symptoms often appearing in adulthood. It can lead to kidney failure in some cases, making the management of the condition crucial. Support and resources are available for individuals and families affected by PKD, including patient advocacy groups like the PKD Foundation.

In summary, scientific articles on PubMed provide a wealth of information on the rare and genetic disease of polycystic kidney disease. These articles cover various aspects of the condition, including its genetic basis, clinical manifestations, and management options. Additionally, resources like genetic registries, clinical trial databases, and patient advocacy groups offer additional support and information for patients and researchers studying PKD.

References

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