Hemolytic uremic syndrome, atypical

Common Name(s)

Hemolytic uremic syndrome, atypical, Atypical hemolytic uremic syndrome

Atypical hemolytic uremic syndrome (aHUS) is a rare genetic disease in which red blood cells are abnormally destroyed, leading to a decreased red blood cell count (anemia) and destruction of the platelets (thrombocytopenia). Platelets are found circulating in the blood and are involved in clot formation to stop bleeding. aHUS is a chronic and often progressive condition that can be inherited at birth or acquired later in life. Most aHUS cases are caused by a problem in the proteins of the complement system, which is a part of the immune system that helps to get rid of things that may be harmful to the body.

Early symptoms of aHUS include malaise, tiredness, lethargy, and irritability. Later, individuals usually develop swelling, blood in the urine, protein in the urine, and a reduced amount of albumin in the blood. Albumin is a major protein in blood that helps to regulate blood pressure and transport proteins and other substances. The debris from destroyed red blood cells in aHUS can clog or damage the tiny blood vessels in the kidney, which is the organ that filters blood and produces urine. Kidney failure may occur and is a feared complication of this condition.

aHUS is often diagnosed based on family history, genetic testing, and signs of a low red blood cell count (anemia), a low platelet count (thrombocytopenia), and kidney damage. Treatment may include IV fluid and nutrient replacement, blood transfusions, and medication to help maintain blood pressure. If the kidneys stop working, then dialysis may be needed in order to filter the blood. If you or a loved one has been diagnosed with aHUS, talk to your doctor about the most current treatment options. In addition, a genetic counselor can help discuss inheritance and risks to other family members.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Hemolytic uremic syndrome, atypical" for support, advocacy or research.

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Foundation for Children with Atypical HUS

The Foundation for Children with Atypical HUS is a not-for-profit 501 (c)(3) organization that provides information to those affected by this rare disease, offers support for patients and families, collaborates with national and international rare disease organizations, offers aHUS meetings, and raises funds for research. The Foundation for Children with Atypical HUS encourages patients and investigators to share information and explore options/resources as we work together to gain insight into this rare complement disorder.

Last Updated: 18 Sep 2013

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Hemolytic uremic syndrome, atypical" for support, advocacy or research.

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Foundation for Children with Atypical HUS

The Foundation for Children with Atypical HUS is a not-for-profit 501 (c)(3) organization that provides information to those affected by this rare disease, offers support for patients and families, collaborates with national and international rare disease organizations, offers aHUS meetings, and raises funds for research. The Foundation for Children with Atypical HUS encourages patients and investigators to share information and explore options/resources as we work together to gain insight into this rare complement disorder.

http://www.atypicalhus.org

Last Updated: 18 Sep 2013

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Hemolytic uremic syndrome, atypical" returned 0 free, full-text research articles on human participants.

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Hemolytic uremic syndrome, atypical" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Complement Activation During Hemodialysis in Atypical Hemolytic Uraemic Syndrome as Underlying Kidney Disease
 

Status: Recruiting

Condition Summary: Atypical Hemolytic Uraemic Syndrome.

 

Last Updated: 4 Dec 2014

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Atypcial Hemolytic-Uremic Syndrome (aHUS) Registry
 

Status: Recruiting

Condition Summary: Atypical Hemolytic-Uremic Syndrome

 

Last Updated: 22 Jul 2015

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Study Assessing an Algorithm-based Strategy of Eculizumab Discontinuation in Children and Adults With aHUS
 

Status: Recruiting

Condition Summary: Atypical Hemolytic Uremic Syndrome

 

Last Updated: 17 Mar 2016

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