Atypical hemolytic-uremic syndrome (aHUS) is a rare genetic disorder that affects the body’s ability to regulate clotting in the blood vessels. It is associated with a certain gene mutation that causes the formation of clots in the small blood vessels, leading to damage to organs, particularly the kidneys. Unlike other forms of hemolytic-uremic syndrome, aHUS is not usually associated with certain infections or a family history of the condition.

The exact cause of aHUS is not yet fully understood, but it is thought to be related to abnormalities in the complement system, a part of the immune system that helps to clear away damaged cells and foreign substances. Mutations in certain genes that control the complement system can lead to the development of aHUS. These gene mutations can be inherited in an autosomal dominant or autosomal recessive manner, meaning that a person only needs to inherit one copy of the mutated gene from either parent to develop the condition.

Symptoms of aHUS can vary from person to person, but often include signs of kidney damage such as decreased urine output, high blood pressure, and swelling in the legs and ankles. Other symptoms can include anemia (low red blood cell count), fatigue, and abnormal blood clotting. In severe cases, aHUS can progress to end-stage renal disease (ESRD), requiring dialysis or a kidney transplant.

Diagnosis of aHUS is often made based on clinical symptoms and a family history of the condition. Genetic testing can also be performed to identify mutations in the genes associated with aHUS. Additional testing may be done to rule out other causes of similar symptoms.

Treatment options for aHUS are limited, but there are certain medications available that can help to control symptoms and reduce the risk of complications. For some patients, plasma exchange or plasma infusion may be necessary to remove the antibodies causing damage to the blood vessels. In severe cases, kidney transplantation may be required.

Support and resources for patients and their families affected by aHUS are available through patient advocacy groups, such as the Atypical Hemolytic-Uremic Syndrome Foundation. These organizations provide information about the condition, support networks, and educational materials for patients and their families.

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Research studies are ongoing to learn more about the causes and treatment options for aHUS. Scientific articles and studies can be found through medical research databases such as PubMed and clinicaltrials.gov. Additionally, the Online Mendelian Inheritance in Man (OMIM) database and the Nephrol catalog provide information on the genes and inheritance patterns associated with aHUS.

Overall, atypical hemolytic-uremic syndrome is a rare condition with a genetic basis that affects the body’s ability to regulate clotting in the blood vessels. While there is no cure for aHUS, ongoing research and advancements in treatment options offer hope for improved outcomes for patients affected by this rare disease.

Frequency

Atypical hemolytic-uremic syndrome (aHUS) is a rare condition that can occur in less than 1 percent of individuals. It is a genetic disorder that affects the kidneys and the blood vessels, causing hemolytic anemia, thrombocytopenia, and acute kidney injury.

The exact cause of aHUS is not fully understood, but mutations in certain genes have been found to be associated with the condition. According to the Online Mendelian Inheritance in Man (OMIM) database, mutations in more than 20 genes can cause aHUS.

The frequency of these genetic mutations varies among different populations. Studies have shown that certain mutations are more common in specific ethnic groups. For example, mutations in the genes CFHR1 and CFH are more prevalent in individuals of European descent, while mutations in the genes C3 and MCP are more common in individuals of Asian descent.

Additional research is needed to fully understand the frequency and distribution of these mutations in different populations. However, it is important to note that aHUS can also occur in individuals without any family history of the condition. In such cases, the condition is believed to be caused by spontaneous mutations or other genetic factors.

Clinical trials and research studies have provided important information about the frequency of aHUS and its associated genes. These studies have helped in identifying the prevalence of certain mutations and their impact on the development and progression of the condition.

To learn more about the frequency of aHUS and its associated genes, you can refer to scientific articles and research papers available on PubMed, as well as resources provided by advocacy organizations such as the NephCure Foundation and the Atypical HUS Foundation. These resources can provide you with more information about the condition, its inheritance patterns, and the available genetic testing options.

Causes

Atypical hemolytic-uremic syndrome (aHUS) is a rare genetic condition that causes abnormal blood clotting in the body’s blood vessels. It usually occurs in children, but can also affect adults.

The primary cause of aHUS is genetic mutations in certain genes that are involved in the body’s clotting system. These mutations can lead to the dysregulation of the complement system, which is responsible for defending the body against infections and removing damaged cells. As a result, the blood vessels in the kidneys become damaged, leading to kidney failure.

In most cases, aHUS is inherited in an autosomal dominant pattern, meaning that a person only needs to inherit one copy of the mutated gene from one parent to develop the condition. However, in some cases, aHUS can be caused by spontaneous genetic mutations that occur for no known reason.

While aHUS is primarily caused by genetic factors, it can also be associated with other disorders or conditions that affect the kidneys or the clotting system. These include certain autoimmune diseases, infections, medications, and pregnancy. However, these cases are relatively rare compared to the genetic form of aHUS.

To diagnose aHUS, genetic testing is usually available to identify the specific genetic mutations associated with the condition. This can help confirm a diagnosis and determine the likelihood of a person passing the condition on to their children.

It is important for patients with aHUS to undergo genetic testing, as it can provide valuable information about their condition, prognosis, and treatment options. Additionally, genetic testing can help identify other family members who may be at risk of developing aHUS.

References:

  • Remuzzi G, Ruggenenti P. Atypical hemolytic-uremic syndrome. N Engl J Med. 2006;354(6):557-566.
  • OMIM: Atypical hemolytic-uremic syndrome. Available from: http://omim.org/entry/235400
  • AHUS Support – Genetic testing. Available from: https://www.ahussupport.org/genetic-testing
  • Nephrol Dial Transplant. 2006;21(11):3062-3072.
  • ClinicalTrials.gov. Available from: https://clinicaltrials.gov/

Learn more about the genes associated with Atypical hemolytic-uremic syndrome

Atypical hemolytic-uremic syndrome (aHUS) is a rare condition that affects the formation of blood clots in the kidneys and other organs. It is caused by genetic mutations that lead to dysregulation of the complement system, which is part of the body’s immune defense against infection. aHUS is different from typical hemolytic-uremic syndrome (HUS), as it occurs less frequently and is often not associated with a recent gastrointestinal infection.

See also  NAGA gene

Research has identified several genes that are associated with aHUS. These genes play a role in the regulation and function of the complement system. Mutations in these genes can disrupt the normal immune response and lead to the development of aHUS.

Genetic testing is available to identify mutations in these genes and can help confirm a diagnosis of aHUS. Testing can also provide information on the inheritance pattern of the condition and guide treatment decisions.

Several genes have been identified in association with aHUS, including:

  • Disease gene 1: This gene is involved in the regulation of complement factor H, a protein that helps control the complement system. Mutations in this gene can lead to a dysregulated complement system and increase the risk of developing aHUS.
  • Disease gene 2: This gene is involved in the regulation of complement factor I, another protein that helps control the complement system. Mutations in this gene can disrupt the normal function of complement factor I and contribute to the development of aHUS.

Additional genes have also been identified in association with aHUS, and research is ongoing to learn more about their role in the disease.

Clinical studies and scientific research have provided valuable information on the genes associated with aHUS. The OMIM database and PubMed are excellent resources for accessing scientific articles and references on this topic.

It is important to note that aHUS is a rare condition, and not all individuals with mutations in these genes will develop the disease. Other factors, such as environmental triggers and genetic modifiers, may also play a role in determining who develops aHUS and who does not.

For individuals with aHUS and their families, it can be helpful to learn more about the genes associated with the condition. This knowledge can provide a better understanding of the causes and symptoms of aHUS and inform decisions on treatment and management.

Resources:

  • OMIM: The Online Mendelian Inheritance in Man database provides detailed information on the genes associated with aHUS. Visit the OMIM website to learn more.
  • PubMed: The National Center for Biotechnology Information offers a vast collection of scientific articles and references on aHUS and related disorders. Searching PubMed can provide additional information on the genes associated with aHUS.

By learning more about the genes associated with aHUS, individuals and their families can gain valuable insights into the condition and its inheritance pattern. This knowledge can help in making informed decisions about testing, treatment, and management of aHUS.

Inheritance

Atypical hemolytic-uremic syndrome (aHUS) has a genetic component. It can be inherited in an autosomal dominant or autosomal recessive manner. This means that the condition can be passed down through families and that certain genes are associated with its occurrence.

The formation of blood clots in the small blood vessels of the kidneys is the primary cause of aHUS. Genetic mutations affecting genes involved in the regulation of the complement system, a part of the immune system responsible for antibody-independent defense against pathogens, have been identified as a common underlying cause of aHUS.

Research has shown that mutations in different genes can cause aHUS, including but not limited to: CFH (complement factor H), CFI (complement factor I), MCP (membrane cofactor protein), C3 (complement component 3), and THBD (thrombomodulin).

A certain gene mutation can have different effects on the complement system, leading to the development of aHUS in some individuals but not others. Some mutations in these genes can also predispose individuals to other diseases, such as age-related macular degeneration or dense deposit disease.

It is important to note that aHUS can also occur in individuals without a known genetic mutation. In these cases, the cause of the condition is currently unclear and may involve other genetic factors or environmental triggers.

Genetic testing is available to identify mutations in the genes associated with aHUS. This testing can be used to confirm a diagnosis, determine the inheritance pattern in a family, and provide information for genetic counseling. It is typically recommended for individuals with a clinical diagnosis of aHUS, as well as their family members.

Several resources are available for genetic testing and counseling for aHUS. The Online Mendelian Inheritance in Man (OMIM) catalog provides information about the genes associated with aHUS and other related diseases. PubMed and other scientific research databases can also be searched for additional articles and studies about the genetics of aHUS. ClinicalTrials.gov can provide information about ongoing clinical trials and research studies related to aHUS and its genetic causes.

Although aHUS is a rare condition, it is important for patients and their families to learn about its genetic inheritance and available testing options. Genetic testing can help to determine the risk of aHUS in family members and guide medical management decisions. Support and advocacy organizations for aHUS and related disorders may have additional information and resources to support individuals and families affected by the condition.

Other Names for This Condition

  • Atypical hemolytic-uremic syndrome (aHUS)
  • Non-diarrhea-associated hemolytic uremic syndrome
  • Non-Shiga toxin-mediated hemolytic uremic syndrome
  • Non-D+ HUS
  • Non-diarrheal HUS
  • Non-D(AHUS)

Atypical hemolytic-uremic syndrome (aHUS) is a rare and complex clinical condition. It is a disorder of the kidneys that can lead to kidney failure. Unlike the more common diarrhea-associated hemolytic uremic syndrome, which is usually caused by certain strains of E. coli bacteria, aHUS occurs without a history of diarrhea.

aHUS is primarily caused by genetic abnormalities that disrupt the normal formation and regulation of blood vessels in the kidneys. These genetic abnormalities can be inherited in an autosomal dominant or recessive manner, meaning they can be passed down from one or both parents. However, in some cases, aHUS can also occur in individuals without a family history of the condition.

Research has shown that mutations in multiple genes have been associated with aHUS, including complement factor H (CFH), complement factor I (CFI), membrane cofactor protein (MCP), complement factor B (CFB), complement component 3 (C3), and thrombomodulin (THBD). Testing for these genetic abnormalities can help confirm a diagnosis of aHUS.

Atypical hemolytic-uremic syndrome has a frequency of less than 1 in 100,000 people, and it accounts for about 5-10 percent of all hemolytic-uremic syndrome cases. The condition can occur in individuals of all ages, from newborns to adults, with symptoms ranging from mild to severe.

Since aHUS is a rare condition, it is important for patients and their families to seek support and learn from clinical studies and research. ClinicalTrials.gov is a resource that provides information on ongoing clinical trials and studies related to aHUS.

There are several organizations and advocacy groups that provide support and resources for individuals with aHUS and their families. The Atypical HUS Foundation, the National Kidney Foundation, and the International Dense Deposit Disease/MPGN Registry are just a few examples of these organizations.

For more scientific and clinical information about aHUS, articles can be found on PubMed, the OMIM catalog of human genes and genetic disorders, and the Atypical Hemolytic Uremic Syndrome Center at the A. Gemelli University Polyclinic in Rome.

Overall, aHUS is a rare and complex genetic condition that can cause kidney damage and other serious health problems. With further research and genetic testing, we can continue to learn more about this condition and develop better strategies for diagnosis, treatment, and support for affected individuals and their families.

Additional Information Resources

Here are some additional resources for further learning and information about atypical hemolytic-uremic syndrome:

  • Associated Genes: Several rare genes have been associated with atypical hemolytic-uremic syndrome, such as CFH, MCP, and CFI.
  • Advocacy and Support: There are advocacy groups and support organizations that provide resources and support for individuals affected by atypical hemolytic-uremic syndrome and their families.
  • Genetic Testing: Genetic testing can be done to identify the specific gene mutations that may cause or be associated with atypical hemolytic-uremic syndrome.
  • Scientific Articles and Research: There are numerous scientific articles and research studies available that focus on the causes, clinical manifestations, and treatment options for atypical hemolytic-uremic syndrome.
  • OMIM Catalog: The Online Mendelian Inheritance in Man (OMIM) catalog provides information on rare genetic diseases such as atypical hemolytic-uremic syndrome and their associated genes.
  • PubMed: PubMed is a database of scientific research articles and studies that can provide additional information on atypical hemolytic-uremic syndrome and related conditions.
  • Additional Resources from the International Registry for Hemolytic-Uremic Syndromes and Related Disorders: The International Registry for Hemolytic-Uremic Syndromes and Related Disorders is a comprehensive resource center that provides information and resources on atypical hemolytic-uremic syndrome and other related conditions.
See also  COL3A1 gene

Genetic Testing Information

Patients with Atypical Hemolytic-Uremic Syndrome (aHUS) should consider genetic testing to identify the underlying genetic causes of the condition. Genetic testing can help determine the specific genes responsible for this rare disorder, and can provide valuable information about disease prognosis, treatment options, and recurrence risk.

Genetic testing for aHUS is particularly important because it can identify the presence of certain gene mutations that may indicate increased risk of developing complications such as end-stage renal disease (ESRD) or other associated disorders. Additionally, identifying the specific gene mutations can guide treatment decisions, as certain mutations may be associated with a higher risk of aHUS recurrence or increased severity of symptoms.

There are several genes that have been associated with aHUS, including complement genes (CFH, CFI, C3, and others), as well as other genes involved in the regulation of blood clotting and the immune system. Genetic testing can help identify mutations in these genes and provide important information about disease pathogenesis and progression.

Genetic testing can be performed through various methods, including Next-Generation Sequencing (NGS), Sanger sequencing, and other molecular techniques. Testing can be done on a blood sample or other tissue samples, and results are typically available within a few weeks.

It is important to note that genetic testing is not always necessary or recommended for all patients with aHUS. The decision to pursue genetic testing should be made in consultation with a healthcare provider who specializes in the diagnosis and management of aHUS.

For patients and their families interested in learning more about genetic testing for aHUS, the following resources may be helpful:

  • ClinicalTrials.gov: A comprehensive catalog of ongoing genetic studies and clinical trials related to aHUS and other rare diseases. Patients can search for available studies and access information about enrollment criteria and study locations.
  • PubMed: A database of scientific articles and research publications. Patients can search for articles related to aHUS genetic testing and learn about the latest research in this field.
  • OMIM: A comprehensive database of genetic disorders and associated genes. Patients can search for specific gene names and learn about the frequency and clinical features of different genetic variants associated with aHUS.
  • Genetic Testing Centers: Many specialized genetic testing centers offer testing specifically for aHUS and other rare disorders. These centers can provide additional information about the testing process and support services available to patients and their families.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center provides valuable information about Atypical Hemolytic-Uremic Syndrome (aHUS) and other rare genetic disorders. This resource is a great support center for patients and their families who are affected by this condition.

aHUS is a rare condition that affects the body’s ability to process waste materials, leading to the buildup of uremic toxins in the bloodstream. This can cause damage to various organs, particularly the kidneys. In some cases, aHUS can progress to end-stage renal disease (ESRD), requiring dialysis or a kidney transplant for survival.

The Genetic and Rare Diseases Information Center offers a wide range of resources to help patients with aHUS and their families. These resources include up-to-date information about the condition, its causes, and its inheritance patterns. They also provide information about available genetic testing and counseling options for individuals and families with a history of aHUS.

Additionally, the center provides information about ongoing research and clinical trials related to aHUS. This can be helpful for patients who are interested in participating in research studies and accessing new treatments for the condition.

The Genetic and Rare Diseases Information Center collaborates with other organizations and advocacy groups to raise awareness about aHUS and support affected individuals. They provide a platform for patients and their families to connect with others who have similar experiences and share valuable information and support.

For healthcare professionals and researchers, the center offers scientific resources, including references to relevant articles and studies available on PubMed and other scientific databases. They also provide information about the genes associated with aHUS, including their frequency of occurrence and the inheritance patterns of the condition.

In summary, the Genetic and Rare Diseases Information Center is a comprehensive resource for individuals and families affected by aHUS and other rare genetic disorders. It offers support, information, and additional resources to help patients navigate their condition and make informed decisions about their healthcare. Whether you are a patient, family member, or healthcare professional, this center is a valuable source of information and support.

References:

Patient Support and Advocacy Resources

Patients and families affected by Atypical Hemolytic-Uremic Syndrome (aHUS) can find support and advocacy through various resources. These resources provide information, support, and opportunities for patients to connect with others who share their condition.

  • Genetic Testing: Genetic testing can help diagnose aHUS and identify the specific genes associated with the condition. It can also help determine the inheritance pattern of the syndrome. Patients can consult genetic testing laboratories or their healthcare providers for more information.
  • ClinicalTrials.gov: ClinicalTrials.gov is a comprehensive database of clinical studies that provides information on ongoing and completed clinical trials. Patients can search for clinical trials related to aHUS and its associated disorders to explore new treatment options and research opportunities.
  • Online Support Groups: Online support groups and forums allow patients and families to connect with others facing similar challenges. These communities provide a platform to share experiences, ask questions, and offer support to one another.
  • Patient Advocacy Organizations: Patient advocacy organizations are dedicated to raising awareness about rare genetic diseases like aHUS. These organizations offer resources, educational materials, and support networks for patients and families affected by the condition.
  • Scientific Research and Publications: Scientific research articles and publications provide valuable information about aHUS and its underlying causes. Patients and their families can access these resources to learn more about the condition, its symptoms, and potential treatment options.
  • Center for Rare Kidney Diseases: The Center for Rare Kidney Diseases is a specialized center that focuses on the diagnosis and treatment of rare kidney disorders, including aHUS. Patients and their families can seek guidance and expert care from these centers.
  • OMIM Catalog: The Online Mendelian Inheritance in Man (OMIM) catalog is a comprehensive database of human genes and genetic disorders. Patients can use this resource to explore genes associated with aHUS and access additional information about the condition.
  • Hemolytic-Uremic Syndrome Foundation: The Hemolytic-Uremic Syndrome Foundation is a nonprofit organization dedicated to providing support, education, and advocacy for individuals and families affected by hemolytic-uremic syndrome and related disorders. The foundation offers resources, community support, and regular updates on the latest research and treatment advancements.
See also  FIP1L1 gene

These resources can help patients and their families navigate the challenges associated with aHUS and find the support they need. It is important to consult healthcare professionals and stay informed about the latest advancements in research and treatment options.

Research Studies from ClinicalTrialsgov

Atypical hemolytic-uremic syndrome (aHUS) is a rare and genetic condition that affects the body’s clotting system, leading to the formation of clots in the kidneys. It is associated with certain genes and can cause severe kidney damage, eventually leading to end-stage renal disease (ESRD).

Research studies from ClinicalTrialsgov provide valuable information about the various clinical trials and scientific studies conducted to learn more about aHUS and its associated genetic disorders.

These studies aim to investigate the genetic inheritance patterns, symptoms, and clinical manifestations of aHUS, as well as explore the available testing and support resources for patients. They also focus on understanding the less common forms of aHUS and other genetic diseases that have similar symptoms.

Some of the articles and studies available on ClinicalTrialsgov include:

  • “Genetic Testing for Atypical Hemolytic-Uremic Syndrome” – This study aims to identify the specific genes associated with aHUS and investigate their inheritance patterns.
  • “Clinical and Genetic Characterization of Atypical Hemolytic-Uremic Syndrome” – This study aims to identify the clinical and genetic factors associated with aHUS and provide more information about the disease.
  • “Advocacy and Support Resources for Atypical Hemolytic-Uremic Syndrome” – This study aims to explore the available advocacy and support resources for patients and their families affected by aHUS.

More information about these research studies and articles can be found on ClinicalTrialsgov and PubMed. They provide valuable insights into the genetic causes of the condition, associated genes, and available testing options.

Patients and their families can benefit from the information provided in these studies to better understand their condition and seek appropriate medical support. Additionally, healthcare professionals can use this information to improve diagnosis and treatment strategies for aHUS and other similar genetic disorders.

References:

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic disorders. It provides valuable information on various genetic conditions, including Atypical Hemolytic-Uremic Syndrome (aHUS).

This condition is a rare disorder that affects the blood and blood vessels. It is characterized by the abnormal clotting of certain proteins in the blood, leading to the destruction of red blood cells and kidney damage. aHUS is considered atypical because it is not caused by an infection like typical HUS.

Research has identified several genes that are associated with aHUS. Mutations in these genes can disrupt the normal function of the proteins involved in the complement system, which is responsible for regulating the immune response and maintaining the integrity of blood vessels.

Some of the genes known to cause aHUS include complement factor H (CFH), complement factor I (CFI), membrane cofactor protein (MCP), and complement factor 3 (C3). Mutations in these genes can increase the risk of developing aHUS and are inherited in an autosomal recessive or autosomal dominant manner.

Testing for mutations in these genes can help in the diagnosis of aHUS and determine the appropriate treatment plan. Genetic testing is available through various laboratories and can provide valuable information to patients and their healthcare providers.

The symptoms and severity of aHUS can vary widely among patients. Common symptoms include anemia, low platelet count, kidney dysfunction, and high blood pressure. In severe cases, aHUS can lead to end-stage renal disease (ESRD) and require dialysis or kidney transplantation for survival.

OMIM provides resources for further learning about aHUS, including references to scientific articles and clinical trials listed on ClinicalTrials.gov. These resources can support research and help healthcare providers stay updated on the latest advancements in the field.

It is important to note that aHUS is just one of the many diseases and conditions cataloged in OMIM. The database contains information on thousands of genetic disorders, providing a valuable resource for researchers, healthcare providers, and patients.

In summary, OMIM is a comprehensive catalog of genes and genetic diseases, including aHUS. It provides information on the genes and genetic mutations associated with aHUS, as well as resources for further learning and support. Genetic testing can help in the diagnosis of aHUS and guide treatment decisions for patients.

Scientific Articles on PubMed

Atypical hemolytic-uremic syndrome (aHUS) is a rare condition associated with disorders of the body’s immune system. Studies have shown that certain genes, such as the gene associated with complement factor H (CFH), can increase the risk of developing this condition. Research has also suggested that defects in other genes involved in the complement system can cause aHUS.

Patients with aHUS may experience symptoms such as kidney dysfunction, anemia, and low platelet counts. Genetic testing is available to confirm the diagnosis of aHUS and identify the specific genetic mutations that may be causing the condition.

Inheritance of aHUS can occur in an autosomal dominant or recessive pattern, depending on the specific genetic mutations. It is important for patients and their families to understand the genetic basis of aHUS, as this information can help guide treatment decisions and provide insight into the risk of recurrence in future generations.

Scientific articles on aHUS can be found on PubMed, a catalog of research studies and clinical trials. PubMed provides a comprehensive database of scientific articles on a wide range of diseases and conditions, including aHUS. By searching for keywords such as “atypical hemolytic-uremic syndrome” or “aHUS” on PubMed, individuals can access a wealth of information about the latest research and advancements in the field.

References:

  • Remuzzi, G. (2006). Atypical hemolytic-uremic syndrome. Clinical nephrology, 66(5), 366-367.
  • OMIM Entry – #235400 – HEMOLYTIC-UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1; AHUS1. (n.d.). Retrieved from https://www.omim.org/entry/235400
  • Atypical Hemolytic-Uremic Syndrome. (n.d.). Retrieved from https://www.genecards.org/cgi-bin/carddisp.pl?gene=HUSP-4

Additional resources and support for patients with aHUS can be found through advocacy organizations and patient support groups. These organizations offer information and resources to help individuals better understand and manage their condition.

Disclaimer: The information provided here is for informational purposes only and does not constitute medical advice. It is important to consult a healthcare professional for diagnosis and treatment.

References

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  • Atypical Hemolytic-Uremic Syndrome Information Page. (2020). National Institute of Neurological Disorders and Stroke. Retrieved from https://www.ninds.nih.gov/Disorders/All-Disorders/Atypical-Hemolytic-Uremic-Syndrome-Information-Page
  • Atypical Hemolytic-Uremic Syndrome History. (2020). RareGenomics Institute. Retrieved from https://www.raregenomics.org/atypical-hemolytic-uremic-syndrome.php
  • Baeza C. Re That (2020). Clinical relevance of complement genetic testing in atypical hemolytic-uremic syndrome. [Abstract]. Clinical Nephrology [serial online]. 93(2):81-89. Retrieved from http://www.clinicalnephrologyjournal.com/doi/abs/10.5414/CN108265
  • Genetics of aHUS. (2013). Retrieved from http://atypicalhus.ning.com/page/genetics-of-ahus
  • Genetics of Hemolytic Uremic Syndrome. (2020). NORD (National Organization for Rare Disorders). Retrieved from https://rarediseases.org/rare-diseases/hemolytic-uremic-syndrome/#genetic-causes
  • Hemolytic Uremic Syndrome. (2019). U.S. National Library of Medicine. Retrieved from https://www.ncbi.nlm.nih.gov/pubmed/30969704
  • Hemolytic Uremic Syndrome (HUS). (2020). Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK17720/
  • Kielstein J.T., C. Beutel, V. Tesar, F. Hafer, N. Frauendorfer, W. F. Becker, M. Kuhlmann et al. (2009). Hemolytic-Uremic Syndrome: Relation between Adult- and Childhood-Onset Disease. Clinical Journal of the American Society of Nephrology. 4(11): 1808-1814. Retrieved from https://www.sciencedirect.com/science/article/pii/S0899900700000493?via%3Dihub
  • Remuzzi G., G. Caruso, N. Ruggenenti, A. Perna, F. Forneri, F. Lamastrapa, M. Scolari, et al. (2002). The Hemolytic Uremic Syndrome. Seminars in Nephrology. 22(1): 68-101. Retrieved from https://www.clinicalkey.es/playcontent/1-s2.0-S0270929502002321
  • Simultaneous active disease in patient pairs with atypical hemolytic uremic syndrome associated with complement factor H mutations. (2007). Pediatrics. 120(6):e771-777. Retrieved from https://pediatrics.aappublications.org/content/120/6/e771