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HUS with mutations in <i>CFH</i> and STEC infection treated with eculizumab in a 4-year-old girl
| Indexado |
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| DOI | 10.1007/S00467-022-05694-Z | ||||
| Año | 2022 | ||||
| Tipo | artículo de investigación |
Citas Totales
Autores Afiliación Chile
Instituciones Chile
% Participación
Internacional
Autores
Afiliación Extranjera
Instituciones
Extranjeras
Abstract
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.
| Ord. | Autor | Género | Institución - País |
|---|---|---|---|
| 1 | Galvez, Carla | Mujer |
Universidad de Chile - Chile
|
| 2 | KRALL-OPAZO, PAOLA MARGARITA | Mujer |
Universidad de Chile - Chile
Universidad Austral de Chile - Chile |
| 3 | ROJAS-COHEN, ALEJANDRO | Hombre |
Universidad Austral de Chile - Chile
|
| 4 | Oh, Jun | - |
Univ Med Ctr Hamburg Eppendorf - Alemania
Universitätsklinikum Hamburg-Eppendorf - Alemania |
| 5 | CANO-SCHUFFENEGER, FRANCISCO JAVIER | Hombre |
Universidad de Chile - Chile
|
| Agradecimiento |
|---|
| Carla Galvez is a resident fellow of the Pediatric Nephrology Program at the Faculty of Medicine at Universidad de Chile. The genetic CFH/CFI analysis was funded by the Grant FICR19-20 from the Gobierno Regional de la Region de Los Rios. |
| Carla Galvez is a resident fellow of the Pediatric Nephrology Program at the Faculty of Medicine at Universidad de Chile. The genetic CFH/CFI analysis was funded by the Grant FICR19-20 from the Gobierno Regional de la Región de Los Ríos. |
| Carla Galvez is a resident fellow of the Pediatric Nephrology Program at the Faculty of Medicine at Universidad de Chile. The genetic CFH/CFI analysis was funded by the Grant FICR19-20 from the Gobierno Regional de la Región de Los Ríos. |
