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Disease Profile
Atypical hemolytic uremic syndrome
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.
1-9 / 100 000
Age of onset
All ages
ICD-10
D58.8
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
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.
Not applicable
Other names (AKA)
aHUS; Atypical HUS; HUS, atypical
Categories
Blood Diseases
Summary
Atypical hemolytic uremic
CD46 (MCP), CFB, CFH, CFHR1, CFHR3, CFHR4, CFI, DGKE, and THBD. Mutations in these genes increase the likelihood (predisposition) to developing aHUS, rather than directly causing the disease. Most cases are sporadic. In familiar cases, predisposition to aHUS is
Atypical hemolytic uremic syndrome differs from a more common condition called typical hemolytic uremic syndrome. The two disorders have different causes and different signs and symptoms.[2]
Symptoms
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
80%-99% of people have these symptoms | ||
Abnormal lactate dehydrogenase level | 0045040 | |
Acute kidney injury | 0001919 | |
Hematuria |
Blood in urine
|
0000790 |
Microangiopathic |
0001937 | |
High urine protein levels
Protein in urine
[ more ] |
0000093 | |
Low platelet count
|
0001873 | |
30%-79% of people have these symptoms | ||
Decreased level of thrombomodulin | 0040229 | |
Decreased serum complement factor B | 0005416 | |
Decreased serum complement factor I | 0005356 | |
Percent of people who have these symptoms is not available through HPO | ||
Anuria |
Absent urine output
|
0100519 |
0000006 | ||
0000007 | ||
Cognitive impairment |
Abnormality of cognition
Cognitive abnormality
Cognitive defects
Cognitive deficits
Intellectual impairment
Mental impairment
[ more ] |
0100543 |
Coma | 0001259 | |
Decreased serum complement C3 | 0005421 | |
Decreased serum complement factor H | 0005369 | |
Diarrhea |
Watery stool
|
0002014 |
Dysphasia | 0002357 | |
Elevated serum creatinine |
Elevated creatinine
High blood creatinine level
Increased creatinine
Increased serum creatinine
[ more ] |
0003259 |
Fever | 0001945 | |
Hemiparesis |
Weakness of one side of body
|
0001269 |
Hemolytic-uremic syndrome | 0005575 | |
Hyperlipidemia |
Elevated lipids in blood
|
0003077 |
0000822 | ||
Increased blood urea nitrogen | 0003138 | |
Purpura |
Red or purple spots on the skin
|
0000979 |
Reticulocytosis |
Increased immature red blood cells
Increased number of immature red blood cells
[ more ] |
0001923 |
Schistocytosis | 0001981 | |
0001250 |
Diagnosis
Please note: Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional. In the Genetic Services section of this letter we provide a list of online resources that can assist you in locating a genetics professional near you.
Treatment
FDA-Approved Treatments
The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.
- Eculizumab(Brand name: Soliris) Manufactured by Alexion Pharmaceuticals, Inc.
FDA-approved indication: September 2011, eculizumab (Soliris) was approved for the treatment of atypical Hemolytic UremicSyndrome (aHUS).
National Library of Medicine Drug Information Portal
Medline Plus Health Information
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.
Social Networking Websites
-
RareConnect has an online community for patients and families with this condition so they can connect with others and share their experiences living with a rare disease. The project is a joint collaboration between EURORDIS (European Rare Disease Organisation) and NORD (National Organization for Rare Disorders).
Organizations Providing General Support
-
American Association of Kidney Patients
3505 E. Frontage Rd., Suite 315
Tampa, FL 33607-1796
Toll-free: 800-749-2257
Telephone: 813-636-8100
Fax: 813-636-8122
E-mail: info@aakp.org
Website: https://www.aakp.org -
American Kidney Fund (AKF)
11921 Rockville Pike
Suite 300
Rockville, MD 20852
Toll-free: 866-300-2900
E-mail: helpline@kidneyfund.org
Website: https://www.kidneyfund.org -
National Kidney Foundation
30 East 33rd Street
New York, NY 10016
Toll-free: 800-622-9010
Telephone: 212-889-2210
Fax: 212-689-9261
E-mail: info@kidney.org
Website: https://www.kidney.org/
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
- The Merck Manual provides information on the complement system. The Merck Manuals are a series of healthcare books for medical professionals and consumers.
- MedlinePlus Genetics contains information on Atypical hemolytic uremic syndrome. This website is maintained by the National Library of Medicine.
- 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.
- 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.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- 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 Atypical hemolytic uremic syndrome. Click on the link to view a sample search on this topic.
Selected Full-Text Journal Articles
- Goodship THJ, Cook HT, Fakhouri F, Fervenza FC, Fremeaux-Bacchi V, Kavanaugh D, Nester CM, Noris M, Pickering MC, Rodriguez de Cordoba S, Roumenina LT, Sethi S, Smith RJH. Atypical hemolytic uremic syndrome and C3 glomerulopathy: conclusions from a “Kidney Disease: Improving Global Outcomes” (KDIGO) Controversies Conference Kidney International. March 2017; 91(3):539-551.
References
- Alpers CE. The Kidney. In: Kumar ed. Robbins and Cotran Pathologic Basis of Disease, Professional Edition , 8th ed. Philadelphia, PA: Saunders; 2009;
- Atypical hemolytic-uremic syndrome. Genetics Home Reference. 2010; https://ghr.nlm.nih.gov/condition/atypical-hemolytic-uremic-syndrome. Accessed 9/27/2010.
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