What is haemolytic uraemic syndrome (HUS)?

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Offline PreciousBane

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What is haemolytic uraemic syndrome (HUS)?
« on: 29/06/2005 14:38:30 »

A friend of mine has a son with this. She also lost her daughter to this disease some years ago.  Her son has recently suffered another attack.  There seems little in the way of treatment, and no research at all going on.  Does anyone know of any research programmes or clinical trials that are looking at atypical (e.g. hereditary) HUS?


Let none admire that riches grow in heaven. That soil best deserves the precious bane
« Last Edit: 21/06/2008 23:36:17 by chris »
Let none admire that riches grow in heaven. That soil best deserves the precious bane


Offline iko

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Re: What is haemolytic uraemic syndrome (HUS)?
« Reply #1 on: 21/06/2008 13:44:36 »
Hi PreciousBane,

who knows where you are, 3 years after you posted your question here.
Well, time has passed and a lot of research has been done in this field.
Some atypical HUS have an inherited (genetic) defect in a specific complement inhibitor called Factor H.
Due to lack or malfunction of this protein, complement is deranged and several organs are damaged, mostly the kidney.
The only treatment available today for these patients is combined liver-kidney transplantation in early age (asap!).
New liver makes the missing complement inhibitor, new kidney replaces the irreversibly damaged ones.

Where next with atypical hemolytic uremic syndrome?

Jokiranta TS, Zipfel PF, Fremeaux-Bacchi V, Taylor CM, Goodship TJ, Noris M.
Department of Bacteriology and Immunology, Haartman Institute and HUSLAB, University of Helsinki and Helsinki University Central Hospital, FIN-00290 Helsinki, Finland. sakari.jokiranta@helsinki.fi

Hemolytic uremic syndrome (HUS) is a systemic disease characterized by damage to endothelial cells, erythrocytes and kidney glomeruli. A "typical" form of HUS follows gastrointestinal infection with enterohemorrhagic E. coli (e.g. O157:H7). Atypical HUS (aHUS) is not associated with gastrointestinal infections but is sporadic or familial in nature. Approximately 50% of aHUS cases are associated with a mutation in one or more genes coding for proteins involved in regulation or activation of the alternative pathway of complement. The link between the disease and the mutations shows the important balance of the alternative pathway between activation and regulation on host cell surfaces. It also demonstrates the power of this pathway in destroying cellular targets in general. In this review we discuss the current knowledge on pathogenesis, classification, diagnostics and management of this disease. We indicate a comprehensive diagnostic approach for aHUS based on the latest knowledge on complement dysregulation to gain both immediate and future patient benefit by assisting in choosing more appropriate therapy for each patient. We also indicate directions in which therapy of aHUS might improve and indicate the need to re-think the terminology and categorisation of the HUS-like diseases so that any advantage in the understanding of complement regulatory problems can be applied to patients accurately.

Mol Immunol. 2007 Sep;44(16):3889-900.

« Last Edit: 21/06/2008 16:06:25 by iko »