The European Rare Kidney Disease Reference Network


Research Project

Project Title:

Genetic and biochemical abnormalities in hemolytic uremic syndrome and thrombotic thrombocytopenic purpura (HUS-TTP study)

Project Type:

Adjunct biobank: DNA, Serum, Plasma

Disease group(s):

Thrombotic microangiopathies

Project Summary:

Aims of the study
To identify the genetic and biochemical factors predisposing to the development (and relapsing) of non-Stx-HUS, TTP and severe Stx-HUS in the patients referred to the International Registry of HUS/TTP.

Primary outcomes
Genetic counselling.
Secondary outcomes: Improvement of the clinical management.

Inclusion criteria
- Patients (male, female) with diagnosis of non-Stx-HUS, TTP or severe Stx-HUS, as above defined.
- relatives (in particular parents and siblings) of patients with non-Stx-HUS or with TTP due to congenital deficiency of ADAMTS-13.
- for adults: written informed consent according to the guidelines of the Declaration of Helsinki.
- for children: written informed consent (according to the guidelines of the Declaration of Helsinki) of parent(s) or guardian.

Exclusion criteria
- Recent treatment (within two weeks) with plasma infusion/exchange which would affect the interpretation of biochemical data.
- Inhability to fully understand the purposes of the study.

Lead principal investigator(s):

Giuseppe Remuzzi, Bergamo


Daina Erica, Bergamo

Project Period:

12/2006   -   12/2020


Non-profit foundation

Project web page:

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