This disease belongs to thrombotic microangiopathies. It is characterized by the presence of renal insufficiency and the absence of neurological signs not attributable to uremic encephalopathy.
in 1998 an association of atypical HUS and the RCA (regulators of complement activity) gene cluster was established.[Error: Macro 'ref' doesn't exist]
Ancillary to the common laboratory investigations to confirm the diagnosis of thrombotic microangiopathy the measurement of factor H plasma levels are recommended. A mutation screening is required if the level is below normal. But cases have been reported in which normal plasma levels have been found despite of documented mutations. Consequently, if there were a family history of HUS, molecular genetic investigation would be indicated anyway.
Reduced plasma levels of factor H or dysfunction of this protein may lead to HUS. But there is evidence that other genetic factors also may induce HUS. The pathogenesis of H factor related HUS is deliniated on gene test description page.
In cases where a CFH or CFI mutation is found combined liver and kidney transplantation can be considered. Also plasmaphereses after transpantation can reduce the risc of tranplantation associated HUS.[Error: Macro 'ref' doesn't exist]
Nürnberger J et al. (2009) Eculizumab for atypical hemolytic-uremic syndrome.[^]
Warwicker P et al. (1998) Genetic studies into inherited and sporadic hemolytic uremic syndrome.[^]
Noris M et al. (2010) Thrombotic microangiopathy after kidney transplantation.[^]
Zipfel PF et al. (2001) Hemolytic uremic syndrome: how do factor H mutants mediate endothelial damage?[^]
Shao C et al. (2004) Whole exon 5 and intron 5 replaced by RHCE in DVa(Hus).[^]