Atypical haemolytic uremic syndrome

Czech version

Authors: T. Indra; D. Frausová
Authors‘ workplace: Klinika nefrologie 1. LF UK a VFN v Praze
Published in: Transfuze Hematol. dnes,30, 2024, No. S1, p. 36-47.
Category:
doi: https://doi.org/10.48095/cctahd2024suppl1S36

Overview

Atypical (or complement-mediated) haemolytic uremic syndrome (aHUS) is a rare disease with a high risk of severe organ damage and death. As a representative of thrombotic microangiopathies, it is defined by microangiopathic haemolytic anaemia, thrombocytopenia and endothelial cell damage resulting in ischemic target organ injury, especially kidney failure. A variety of clinical scenarios can have the features of thrombotic microangiopathies thus impeding the differential diagnosis of the underlying condition. aHUS is caused by a genetic or acquired defect in the regulation of the alternative complement pathway resulting in its persistent activation, formation of terminal membrane attacking complexes, microvascular endothelial damage and ischemic organ injury. Roughly 50% of patients have rare germline variants in complement genes, detection of antibodies against complement factors (CFH) is much less common. In carriers of these genetic mutations, due to the incomplete genetic penetrance of aHUS, a clinically significant disease often requires a complement-amplifying trigger such as infection, surgery or pregnancy. Identification of germline variants is not necessary for the diagnosis of aHUS; however, it is important for the estimation of prognosis and risk of relapse after treatment termination or kidney transplant. Thanks to new specific treatment options represented by complement inhibitors, the prognosis of patients with aHUS has improved rapidly, however, it remains dependent on rapid and correct diagnostics and early treatment initiation. Further discussed and unsolved questions relate to treatment duration and the possibility of its termination as well as further management and follow-up of patients after the episode of aHUS.

Keywords:

thrombotic microangiopathy – kidney failure – eculizumab – atypical haemolytic uremic syndrome – complement factors inhibitors

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PODÍL AUTORŮ NA PŘÍPRAVĚ RUKOPISU

TI – první verze článku

DF – revize

ČESTNÉ PROHLÁŠENÍ

Autoři práce prohlašují, že v souvislosti s tématem, vznikem a publikací tohoto článku nejsou ve střetu zájmu a vznik ani publikace článku nebyly podpořeny žádnou farmaceutickou firmou.

Do redakce doručeno dne: 29. 12. 2023.

Přijato po recenzi dne: 19. 2. 2024.

MUDr. Tomáš Indra, Ph.D.

Klinika nefrologie

VFN a 1. LF UK v Praze

U Nemocnice 2

128 08 Praha 2

e-mail: tomas.indra@vfn.cz