Kivonat:
BACKGROUND: Hemolytic uremic syndrome (HUS) is a rare disease
with various etiologies, making the identification of the
specific forms and appropriate treatment difficult. Therefore,
clinical and laboratory data from these patients need to be
analyzed in national and international registries. Herein we
have described 47 Hungarian HUS patients with detailed
laboratory and clinical data obtained between 2008 and 2010.
METHODS: Blood samples and clinical data of 47 patients with HUS
diagnosed according to characteristic clinical signs were
submitted for diagnostic evaluation, including complement
protein and genetic analysis, measurement of ADAMTS13 activity
and antibody analysis against O157LPS and factor H. RESULTS:
There were 8 patients with typical diarrhea-positive HUS; 13
with atypical HUS (aHUS) and 26 with secondary HUS/thrombotic
thrombocytopenic purpura group characterized by signs of
complement consumption and decreased ADAMTS13 activity. Thus,
decreased total alternative pathway activity is a promising
diagnostic parameter with good sensitivity for aHUS.
CONCLUSIONS: These observations highlight the requirement for
multiple diagnostic tests together with clinical data to
identify the specific cause of HUS. Because the long-term
prognosis of aHUS, eg, graft survival after renal
transplantation, may vary according to the molecular etiology,
it is important for all affected patients to undergo a detailed
molecular diagnosis of the disease. There is a clear clinical
need for the development and application of novel assay in this
field to allow more rapid efficient diagnosis of patients who
undergo a first episode of HUS.
