Síndrome urémico hemolítico atípico por identificación de C3 por estudio genético. Reporte de caso.

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Title: Síndrome urémico hemolítico atípico por identificación de C3 por estudio genético. Reporte de caso.
Alternate Title: Atypical Hemolytic Uremic Syndrome by identification of C3 by genetic study. Case report.
Authors: Flores Salazar, Heriberto Sebastián1 sebastianfloressalazar@gmail.com, Cruz Aquino, David2, Frías Mendívil, Mauricio3
Source: Boletín Clínico Hospital Infantil del Estado de Sonora. abr2023, Vol. 40 Issue 1, p36-39. 4p.
Abstract (English): The atypical Hemolytic Uremic Syndrome (aHUS) is a rare variant of a TMA caused by an abnormality in alternative complement pathway, resulting in an endothelial dysfunction producing thrombus formation at the level of the microvasculature. It is considered as an atypical HUS since it is not caused by any of the common etiologies of classic HUS (shyga toxin produced by E. coli O157:H7 or S. dysenteriae). The genetic alterations or acquired dysregulations of the alternative complement pathway result in 40%-60% of aHUS causes, suggesting a high genetic predisposition. [ABSTRACT FROM AUTHOR]
Abstract (Spanish): El Síndrome Hemolítico Urémico atípico (SHUa) es una variante rara de una tromboangiopatía, causada por anormalidades en la vía alterna del complemento. Da como resultado disfunción renal a nivel endotelial, que produce formación de trombos en la microvasculatura. Se considera como SHU atípico, ya que éste no es causado por ninguna de las etiologías comunes del SHU clásico (toxina Shiga producida por E. coli O157:H7 o S. dysenteriae). Las alteraciones genéticas o las disrregulaciones adquiridas de la vía alterna del complemento, resultan entre el 40%-60% de las causas de SHUa, lo que sugiere una alta predisposición genética. [ABSTRACT FROM AUTHOR]
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Database: MedicLatina
Description
Abstract:The atypical Hemolytic Uremic Syndrome (aHUS) is a rare variant of a TMA caused by an abnormality in alternative complement pathway, resulting in an endothelial dysfunction producing thrombus formation at the level of the microvasculature. It is considered as an atypical HUS since it is not caused by any of the common etiologies of classic HUS (shyga toxin produced by E. coli O157:H7 or S. dysenteriae). The genetic alterations or acquired dysregulations of the alternative complement pathway result in 40%-60% of aHUS causes, suggesting a high genetic predisposition. [ABSTRACT FROM AUTHOR]
ISSN:14051303