Hemolytic Uremic Syndrome (HUS) – One of the Most Common Causes of Acute Renal Failure in Childhood.
Complexity of the Pathophysiology and Novel Diagnostic and Therapeutic Options for Atypical Forms

Česká verzia

Authors: M. Malina; J. Janda; T. Seeman
Authors place of work: Pediatrická klinika UK 2. LF a FN Motol, Praha přednosta prof. MUDr. J. Lebl, CSc.
Published in the journal: Čes-slov Pediat 2010; 65 (11): 648-653.
Category: Review

Summary

Hemolytic uremic syndrome (HUS) is a severe life-threatening disease, a thrombotic microangiopathy like thrombocytopenic purpura and HELLP syndrome, characterized by the clinical triad of hemolytic anemia, thrombocytopenia and acute loss of renal function. It is the most frequent cause of acute renal failure in children. The classical form of HUS (D+ HUS) typically develops after a diarrheal prodrome which in 75% of patients is triggered by Shiga-like toxin producing enterohemorrhagic Escherichia coli (EHEC). In 90% of cases, the condition is reversible, with complete recovery and no recurrence. The second form of HUS called D- HUS or atypical HUS (aHUS) affects a heterogeneous group of about 10% patients in whom infection is not confirmed. The two forms of HUS differ in symptoms and response to therapy. Severe cases and relapses are much more common in atypical HUS. Recently, the association between mutations in genes for complement cascade regulatory proteins and aHUS has been reported. Six genes whose mutations are involved in the development of about 60% of aHUS cases have been identified. Every endeavour is made to find new therapeutic options for aHUS patients. The recently reported promising therapeutic potential of the monoclonal antibody eculizumab paves the way for the treatment of aHUS.

Key words:
atypical hemolytic uremic syndrome, molecular genetics, eculizumab, kidney and liver transplantation

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