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Open Access 30-09-2024 | Eculizumab | Original Article

Shiga toxin-producing Escherichia coli infection as a precipitating factor for atypical hemolytic-uremic syndrome

Authors: Gabriele Mortari, Carolina Bigatti, Giulia Proietti Gaffi, Barbara Lionetti, Andrea Angeletti, Simona Matarese, Enrico Eugenio Verrina, Gianluca Caridi, Francesca Lugani, Valerio Gaetano Vellone, Decimo Silvio Chiarenza, Edoardo La Porta

Published in: Pediatric Nephrology

Abstract

Background

Hemolytic uremic syndrome (HUS) is a thrombotic microangiopathy characterized by intravascular hemolysis. It can be classified as either typical, primarily caused by Shiga toxin-producing Escherichia coli (STEC) infection, or as atypical HUS (aHUS), which results from uncontrolled complement activation.

Methods

We report the case of a 9-year-old boy with aHUS due to compound heterozygous complement factor H-related genes (CFHR) 1/3 and CFHR1–CFHR4 deletions, leading to the development of anti-complement factor H (CFH) autoantibodies. The patient presented nephrological and neurological thrombotic microangiopathy with STEC positivity. Additionally, we provide an extensive literature review of aHUS cases initially classified as typical.

Results

A total of 11 patients were included, 73% of whom were pediatric. Kidney replacement therapy was required in 73% of patients. The recurrence rate was 55%. All cases were found positive for pathological variants of the complement system genes. The most commonly implicated gene was CFH, while the CFHR genes were involved in 36% of cases, although none exhibited anti-CFH autoantibodies. Anti-complement therapy was administered in 54% of cases, and none of the patients who received it early progressed to kidney failure.

Conclusions

STEC infection does not exclude aHUS diagnosis, and early use of anti-complement therapy might be reasonable in life-threatening conditions. Genetic testing can be helpful in patients with atypical presentations and can confirm the necessity of prolonged anti-complement therapy.

Graphical Abstract

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Title: Shiga toxin-producing Escherichia coli infection as a precipitating factor for atypical hemolytic-uremic syndrome
Authors: Gabriele Mortari
Carolina Bigatti
Giulia Proietti Gaffi
Barbara Lionetti
Andrea Angeletti
Simona Matarese
Enrico Eugenio Verrina
Gianluca Caridi
Francesca Lugani
Valerio Gaetano Vellone
Decimo Silvio Chiarenza
Edoardo La Porta
Publication date: 30-09-2024
Publisher: Springer Berlin Heidelberg
Keywords: Eculizumab
Hemolytic Uremic Syndrome
Thrombotic Microangiopathy
Escherichia Coli
Published in: Pediatric Nephrology
Print ISSN: 0931-041X
Electronic ISSN: 1432-198X
DOI: https://doi.org/10.1007/s00467-024-06480-9

Keynote webinar | Spotlight on modern management of frailty

Springer Medicine

Shiga toxin-producing Escherichia coli infection as a precipitating factor for atypical hemolytic-uremic syndrome

Abstract

Background

Methods

Results

Conclusions

Graphical Abstract

Keynote webinar | Spotlight on modern management of frailty

Springer Medicine

Abstract

Background

Methods

Results

Conclusions

Graphical Abstract

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