The role of ADAMTS-13 activity and complement mutational analysis in differentiating acute thrombotic microangiopathies.

ABSTRACT:

Unlabelled

ESSENTIALS: Molecular diagnostics has improved the differentiation of acute thrombotic microangiopathys (TMAs). Atypical hemolytic uremic syndrome may have features mimicking thrombotic thrombocytopenic purpura. We identified novel complement mutations and a high incidence of CD46, with favorable long term outcomes. Complement mutation analysis in TMA where the diagnosis is unclear and ADAMTS-13 activity is >10%.

Background

Differentiation of acute thrombotic microangiopathy (TMA) at presentation has historically been dependent on clinical parameters. Confirmation of thrombotic thrombocytopenic purpura (TTP) is increasingly reliant on demonstrating deficient ADAMTS-13 activity. The identification of alternative complement pathway abnormalities in atypical hemolyti

SUBMITTER: Phillips EH 

PROVIDER: S-EPMC4737436 | biostudies-literature | 2016 Jan

REPOSITORIES: biostudies-literature