Family Genetic Variations Identified That Can Help Improve Personalized Medicine at aHUS

MADRID, Jun 5 (EUROPA PRESS) –

The CIBERER unit led by Santiago Rodríguez de Córdoba at the Biological Research Center (CSIC) has carried out a study that will improve the personalized clinical approach to those affected by atypical hemolytic uremic syndrome (aHUS) and genetic counseling to their families. aHUS is a rare serious disease that in many cases leads to end-stage renal disease.

Using data from 103 aHUS family trees, which include nearly 500 individuals, this study provides robust estimates of the risk of developing aHUS associated with different loads of rare complement mutations and how these risks are modified by the presence of common aHUS risk polymorphisms.

In previous genetic studies, this group has identified the pathogenic mechanism whose knowledge allows the treatment of aHUS patients with eculizumab, a humanized monoclonal antibody that inhibits complement and significantly improves kidney function in patients. In addition, this laboratory currently performs routine genetic analyzes to determine the clinical diagnosis of the disease and to facilitate personalized medicine for patients with aHUS.

However, these genetic analyzes detect numerous asymptomatic relatives carrying pathogenic complement mutations, which raises great concern among families and clinicians because reliable aHUS penetrance values ​​are lacking for these individuals.

The data from this new work, published in the journal ‘Blood’, will help clinicians improve the personalized management of patients with aHUS and facilitate genetic counseling for their families. The research has been carried out in collaboration with the Puerta de Hierro Hospital and the Complutense University of MadrId.

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