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Atypical Hemolytic Uremic Syndrome
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Reviewed December 2007
What is Atypical Hemolytic Uremic Syndrome?
Hemolytic-uremic syndrome (HUS) consists of three main symptoms. Red blood cells are destroyed resulting in in anemia (microangiopathic hemolytic anemia), low platelet count occurs in the blood (thrombocytopenia) and accumulation of platelets and red blood cells (microthrombi) blocks certain blood vessels resulting in decrease blood flow to organs such as the kidneys, pancreas and brain. This may result in kidney failure. Hypertension is often severe. For atypical HUS diarrhea cannot be present. Normal levels of f actor H do not exclude the presence of a CFH mutation.
How common is Atypical Hemolytic Uremic Syndrome?
aHUS is a rare disease with prevalence of less than six per 10,000 individuals and accounts for about 10% of hemolytic uremia cases found in children. aHUS associated with mutations in CFH gene usually presents during early childhood.
What genes are related to Atypical Hemolytic Uremic Syndrome?
Mutations in the CFH gene causes Atypical Hemolytic Uremic Syndrome.
How do people inherit Atypical Hemolytic Uremic Syndrome?
Most individuals with a CFH mutation are heterozygous, often resulting in a single amino acid change or a premature stop codon. Incomplete penetrance has been found in all familial aHUS.
Where can I find information about treatment for Atypical Hemolytic Uremic Syndrome?
Where can I find additional information about Atypical Hemolytic Uremic Syndrome?
You may find the following resources about Atypical Hemolytic Uremic Syndrome helpful. These materials are written for the general public.
You may also be interested in these resources, which are designed for healthcare professionals and researchers.
What other names do people use for Atypical Hemolytic Uremic Syndrome?
See How are genetic conditions and genes named? in the Handbook.
What if I still have specific questions about Atypical Hemolytic Uremic Syndrome?
Where can I find general information about genetic conditions?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding Atypical Hemolytic Uremic Syndrome?
acids ; amino acid ; atom ; autosomal ; autosomal dominant ; autosomal recessive ; cell ; compound ; deficiency ; enzyme ; gene ; glycine ; hepatic ; hydrolase ; incidence ; inheritance ; inheritance pattern ; learning disability ; mental retardation ; methyl ; molecule ; motor ; motor skill ; mutation ; neurological ; newborn screening ; protein ; recessive ; screening ; sign ; symptom
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.