Atypical hemolytic uremic syndrome (aHUS) is a very rare,
life-threatening, progressive disease that frequently has a genetic
component. In most cases it is caused by chronic, uncontrolled
activation of the complement system, a branch of the body’s immune system that destroys and removes foreign particles. The disease affects both children and adults and is characterized by systemic thrombotic microangiopathy
(TMA), the formation of blood clots in small blood vessels throughout
the body, which can lead to stroke, heart attack, kidney failure, and
The complement system activation may be due to mutations in the
complement regulatory proteins (factor H, factor I, or membrane cofactor
or is occasionally due to acquired neutralizing autoantibody inhibitors
of these complement system components, for example anti–factor H
Despite the use of supportive care, historically an estimated 33-40% of
patients died or developed end-stage renal disease (ESRD) with the
first clinical bout of aHUS. Including subsequent relapses, a total
approximately two-thirds (65%) of patients died, required dialysis, or
had permanent renal damage within the first year after diagnosis despite
plasma exchange or plasma infusion (PE/PI).
Here is one video of one child from the video page of The Foundation for Children with Atypical HUS:
aHUS is one of the rare diseases that has a treatment that was approved in 2011 for the treatment of both adults and children.
aHUS is just one of 7,000 rare diseases, most without cures
and very few treatments. Please see the rare disease facts at GlobalGenes.org and feel free to share this post with anyone and everyone.
Rare Disease Day is February 28, 2013.