Clinico-pathological findings in diarrhoea-negative haemolytic uraemic syndrome

Abstract

This is a retrospective, national clinico-pathological study of past and current patients with haemolytic uraemic syndrome not associated with diarrhoea (D- HUS). Thirty-four patients were analysed and notified by members of the British Association for Paediatric Nephrology in 1998-1999. There was a 2:1 excess of males. Ten presented in infancy. The aetiology included 5 patients with complement abnormalities, 2 patients with complications of pneumococcal infection, and 2 with malignancies. Parental consanguinity was noted in 6 patients. Five children died, 9 developed chronic renal failure, and 10 end-stage renal failure. Only 7 made full recoveries. With a single exception, the pathological findings were unlike the previously reported glomerular thrombosis that is characteristic of diarrhoea-associated HUS, or HUS complicating verocytotoxin-producing Escherichia coli infection. Early and late glomerulopathy could be distinguished. Arteriolar and arterial disease was observed in 8 and 7 patients, respectively. Arterial disease correlated with a poor outcome. The pathology of D- HUS is of prognostic value, but this study was not powered to identify specific aetiological/pathological correlations.

Síndrome hemolítico urémico atípico, revisión de la literatura y documento de consenso. Enfoque diagnóstico y tratamiento

“…A las 26 semanas, 80% de los pacientes estaban libres de eventos de MAT (sin disminución del recuento plaquetario >25%, sin PF/IPy sin iniciar diálisis) 45,54 . Como se muestra en lastablas 1 y 2, un total de 18 de 20 pacientes (90%)lograron normalización hematológica a la semana 26, la cual se mantuvo en el seguimiento a 3 años, 47 . El tratamiento indefinido con eculizumab resultó en un aumento continuo y sostenido en la TFGe.…”

“…Todos los pacientes en tratamiento con eculizumab en este estudio suspendieron el tratamiento con PF/ IPy no volvieron a requerir diálisis 6,45 . Los pacientes tuvieron una mejoría clínicamente significativa en la calidad de vida (QoL), medida por EuroQoL-5D a la semana 26,la cual se mantuvo hasta el final del estudio 45,47 .El cambio en el recuento plaquetario, la normalización hematológica y la estabilización o mejoría renal con el tratamiento con eculizumab se lograron independientemente de la identificación de una mutación del complemento o de antecedentes de trasplante renal 6,45 . Un paciente fallece, sin ser atribuido al tratamiento con eculizumab 47 .…”

Modeling how CD46 deficiency predisposes to atypical hemolytic uremic syndrome

“…It typically follows a diarrheal illness (primarily E. coli O157:H7 infection) but also occurs in nonenteropathic settings in association with pregnancy, malignancies, drugs, and transplantation. Such cases are called atypical HUS or aHUS and may occur as sporadic or familial forms (Taylor et al, 2004). Although most do not have an identifiable trigger, some follow infection (Constantinescu et al, 2004).…”

Combined Complement Gene Mutations in Atypical Hemolytic Uremic Syndrome Influence Clinical Phenotype

“…1,4 Inherited defects that determine uncontrolled activation of the alternative complement pathway have been well documented in aHUS patients. 2,5,6 Research in recent years has identified more than 120 different mutations, accounting for around 40%-60% of cases, in the genes encoding complement factor H (CFH), [7][8][9] membrane cofactor protein (MCP), [10][11][12][13] complement factor I (CFI), [14][15][16] C3, 17 complement factor B (CFB), 18,19 CFH-related 5 (CFHR5), 20 and thrombomodulin (THBD).…”