Toggle Main Menu Toggle Search

Open Access padlockePrints

The genetics and pathogenesis of haemolytic uraemic syndrome and thrombotic thrombocytopenic purpura

Lookup NU author(s): Professor Judith Goodship, Professor Tim Goodship

Downloads

Full text for this publication is not currently held within this repository. Alternative links are provided below where available.


Abstract

Purpose of review In recent years there has been a substantial increase in the understanding of the genetics and pathogenesis of haemolytic uraemic syndrome and thrombotic thrombocytopenic purpura. Recent findings In diarrhoeal associated haemolytic uraemic syndrome it has been established that the virulence of Escherichia coli O 157 is related to intimin adhesion and the transport of verocytotoxin on polymorphonuclear cells. It has been shown that early changes in the coagulation pathway predate the onset of diarrhoeal haemolytic uraemic syndrome. Mutations in factor H, a fluid-phase regulator of the alternative complement pathway, have been identified in 10-20% of patients with both familial and sporadic (non-diarrhoeal-associated) haemolytic uraemic syndrome. The mutations mainly cluster in the C terminal part of factor H, a region that is important for both binding to C3b and also polyanionic structures on cell surfaces. The identification of antibodies against a plasma metalloproteinase responsible for cleaving ultralarge von Willebrand factor multimers in thrombotic thrombocytopenic purpura has been followed by the elucidation of the identity of the proteinase. It has been shown to be a member of the ADAMTS family, and mutations have been identfied in the gene in families with inherited thrombotic thrombocytopenic purpura. Summary The molecular pathogenesis of haemolytic uraemic syndrome and thrombotic thrombocytopenic purpura is an exciting and rapidly evolving field. These recent advances will lead to logical, targetted changes in the management of these conditions.


Publication metadata

Author(s): Goodship JA; Goodship THJ; Richards A

Publication type: Review

Publication status: Published

Journal: Current Opinion in Nephrology & Hypertension

Year: 2002

Volume: 11

Issue: 4

Pages: 431-435

ISSN (print): 1062-4821

ISSN (electronic): 1473-6543

URL: http://dx.doi.org/10.1097/00041552-200207000-00010

DOI: 10.1097/00041552-200207000-00010


Share