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Pediatric Nephrology

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15.08.2022 | Original Article

HUS with mutations in CFH and STEC infection treated with eculizumab in a 4-year-old girl

verfasst von: Carla Galvez, Paola Krall, Alejandro Rojas, Jun Oh, Francisco Cano

Erschienen in: Pediatric Nephrology | Ausgabe 4/2023

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Abstract

Background

Hemolytic uremic syndrome secondary to Shiga-toxin-producing Escherichia coli infection (STEC-HUS) generally shows a favorable outcome. Few cases develop extra-renal complications, since neurological involvement is an important cause of morbidity and mortality. The role of complement in STEC-HUS has been recently highlighted, and the use of eculizumab in severe cases has been communicated. HUS results from environmental and genetic factors, but the simultaneous occurrence of STEC and complement mutations remains undetermined.

Methods

A pediatric case with severe STEC-HUS carrying CFH mutations, with favorable response to eculizumab is analyzed.

Results

STEC-HUS was diagnosed in a 4-year-old girl with classic HUS, including low C3. Peritoneal dialysis was started due to hypertension, oligoanuria, and pleural effusion. She evolved with generalized tonic–clonic seizures and required mechanical ventilation. MRI reported multiple supra- and infratentorial ischemic lesions with laminar/striatal cortical necrosis and leukoencephalopathy. After two eculizumab doses, a significative stabilization in diuresis, blood pressure, creatinine, and C3 was achieved. At the third week, episodes of massive digestive bleeding and a life-threatening condition required a colectomy thus preserving the ileocecal valve. Due to atypical evolution, a genetic study was considered, identifying two heterozygous variants (CFH S1191L/V1197A).

Conclusion

STEC-HUS in patients with a genetic predisposition has been previously reported, but the low frequency of occurrence makes it a rare disease. As in the present case, patients with atypical course might benefit from genetic analysis to evaluate early eculizumab initiation and to better understand its phenotype.

Graphical abstract

A higher resolution version of the Graphical abstract is available as Supplementary information

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Titel: HUS with mutations in CFH and STEC infection treated with eculizumab in a 4-year-old girl
verfasst von: Carla Galvez
Paola Krall
Alejandro Rojas
Jun Oh
Francisco Cano
Publikationsdatum: 15.08.2022
Verlag: Springer Berlin Heidelberg
Erschienen in: Pediatric Nephrology / Ausgabe 4/2023
Print ISSN: 0931-041X
Elektronische ISSN: 1432-198X
DOI: https://doi.org/10.1007/s00467-022-05694-z

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HUS with mutations in CFH and STEC infection treated with eculizumab in a 4-year-old girl

Abstract

Background

Methods

Results

Conclusion

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