Underlying Genetics of aHUS: Which Connection with Outcome and Treatment Discontinuation?

Atypical hemolytic uremic syndrome (aHUS) is a rare disease caused by a genetic dysregulation of the alternative complement pathway, characterized by thrombocytopenia, hemolytic anemia, and acute kidney injury, and included in the group of thrombotic microangiopathies. With the introduction of human...

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Published in:International journal of molecular sciences 2023-10, Vol.24 (19), p.14496
Main Authors: Spasiano, Andrea, Palazzetti, Daniela, Dimartino, Lucrezia, Bruno, Francesca, Baccaro, Rocco, Pesce, Francesco, Grandaliano, Giuseppe
Format: Article
Language:English
Subjects:
Antibodies
Chromosomes
Genes
Glycoproteins
Hypertension
Immune system
Influenza
Kidneys
Kinases
Mutation
Pathogenesis
Proteins
Rare diseases
Review
Severe acute respiratory syndrome coronavirus 2
Streptococcus infections
Transplants & implants
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Summary:Atypical hemolytic uremic syndrome (aHUS) is a rare disease caused by a genetic dysregulation of the alternative complement pathway, characterized by thrombocytopenia, hemolytic anemia, and acute kidney injury, and included in the group of thrombotic microangiopathies. With the introduction of humanized monoclonal antibodies that inhibit C5 activation, the natural history of aHUS completely changed, with a better prognosis, a quick recovery of renal function, and a significant reduction of end-stage renal disease incidence. Nowadays, there is an increasing interest in the molecular and genetic bases of this severe disease. The aim of this narrative review is to provide readers with a practical guide about different possible involved genes, elucidating the specific role of each transcribed protein in the pathogenesis of aHUS. Moreover, we analyzed the main current evidence about the relationship among genetic mutations, outcomes, and the risk of recurrence of this manifold disease.
ISSN:1422-0067
1661-6596
1422-0067
DOI:10.3390/ijms241914496