Risk of Atypical HUS Among Family Members of Patients Carrying Complement Regulatory Gene Abnormality.

ABSTRACT:

Introduction

Atypical hemolytic uremic syndrome (aHUS) is mainly due to complement regulatory gene abnormalities with a dominant pattern but incomplete penetrance. Thus, healthy carriers can be identified in any family of aHUS patients, but it is unpredictable if they will eventually develop aHUS.

Methods

Patients are screened for 10 complement regulatory gene abnormalities and once a genetic alteration is identified, the search is extended to at-risk family members. The present cohort study includes 257 subjects from 71 families: 99 aHUS patients (71 index cases + 28 affected family members) and 158 healthy relatives with a documented complement gene abnormality.

Results

Fourteen families (19.7%) experienced multiple cases. Over a cumulative observation period of 759

SUBMITTER: Ardissino G 

PROVIDER: S-EPMC8207326 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature