Rare Gastroenterology News

Disease Profile

Hemolytic uremic syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

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ICD-10

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Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

HUS; Acute renal failure, thrombocytopenia, and microangiopathic hemolytic anemia associated with distorted erythrocytes ('burr cells')

Categories

Blood Diseases

Summary

Hemolytic uremic syndrome (HUS) is a disorder that usually occurs when an E. coli bacterial infection in the digestive system produces toxic substances that destroy red blood cells. Symptoms include vomiting and diarrhea, fever, lethargy, and weakness. In severe cases it can lead to kidney failure or death. While this condition is most common in children, it often has a more complicated presentation in adults. Treatment may include dialysis, corticosteroids, transfusions of packed red blood cells and plasmapheresis.[1]

Hemolytic uremic syndrome should be distinguished from atypical hemolytic uremic syndrome (aHUS). The two conditions have different causes and different signs and symptoms.[1]

Cause

Hemolytic uremic syndrome often occurs after a gastrointestinal infections with E. coli bacteria (Escherichia coli 0157:H7). The condition has also been linked to other gastrointestinal infections, including shigella and salmonella, as well as infections outside of the gastrointestinal system.[1] The condition results when the bacteria lodge in the digestive tract and produce toxins that can enter the bloodstream. The toxins travel through the bloodstream and can destroy blood cells, causing acute kidney injury.[2]

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Providing General Support

    Learn more

    These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

    Where to Start

    • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
    • The National Digestive Diseases Information Clearinghouse (NIDDK) offers information on this condition. Click on the link to view information on this topic.
    • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

      In-Depth Information

      • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
      • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
      • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
      • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
      • PubMed is a searchable database of medical literature and lists journal articles that discuss Hemolytic uremic syndrome. Click on the link to view a sample search on this topic.

        References

        1. Gersten T. Hemolytic-uremic syndrome. MedlinePlus. February 24, 2014; https://www.nlm.nih.gov/medlineplus/ency/article/000510.htm. Accessed 1/3/2015.
        2. Hemolytic Uremic Syndrome in Children. National Kidney and Urologic Diseases Information Clearinghourse (NKUDIC). October 1, 2014; https://kidney.niddk.nih.gov/kudiseases/pubs/childkidneydiseases/hemolytic_uremic_syndrome/. Accessed 1/3/2015.

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