An ex vivo test to investigate genetic factors conferring susceptibility to atypical haemolytic uremic syndrome.

ABSTRACT:

Introduction

Comprehensive genetic analysis is essential to clinical care of patients with atypical haemolytic uremic syndrome (aHUS) to reinforce diagnosis, and to guide treatment. However, the characterization of complement gene variants remains challenging owing to the complexity of functional studies with mutant proteins. This study was designed: 1) To identify a tool for rapid functional determination of complement gene variants; 2) To uncover inherited complement dysregulation in aHUS patients who do not carry identified gene variants.

Methods

To address the above goals, we employed an ex-vivo assay of serum-induced C5b-9 formation on ADP-activated endothelial cells in 223 subjects from 60 aHUS pedigrees (66 patients and 157 unaffected relatives).

Results

Sera t

SUBMITTER: Gastoldi S 

PROVIDER: S-EPMC9949374 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature