RESUMEN
BACKGROUND: We report the case of a patient with Shiga toxin (Stx)-associated hemolytic-uremic syndrome (HUS) (STEC-HUS) with a concomitant heterozygous mutation of the gene coding for complement Factor H (CFH). CASE DIAGNOSIS/TREATMENT: An 18-month-old patient presented with hemolytic anemia and thrombotic microangiopathy in the context of acute gastroenteritis. While the patient did not show kidney or other organ failure, he had persistent hemolysis and complement 3 activation (low C3), leading to the decision to commence immunotherapy with eculizumab (Soliris®) together with transient antibiotic coverage and meningococcal vaccination. Patient outcome was favorable. Diagnostic work-up identified Escherichia coli-associated Type 2 Shiga toxin. Complement analysis showed a heterozygous mutation of the CFH gene (c.2103 G>A, p. Trp701X) resulting in a quantitative CFH defect. CONCLUSIONS: We report a case of STEC-HUS with a quantitative CFH defect caused by a mutation of the CFH gene. To the best of our knowledge, very few cases of STEC-HUS with complement gene mutation have been reported, but none to date with a CFH mutation. We therefore suggest that complement analyses be performed in patients diagnosed with STEC-HUS in association with low C3 levels, especially in patients presenting with severe or unexpected clinical symptoms.
Asunto(s)
Infecciones por Escherichia coli/microbiología , Síndrome Hemolítico-Urémico/genética , Síndrome Hemolítico-Urémico/microbiología , Mutación , Escherichia coli Shiga-Toxigénica/patogenicidad , Adolescente , Antibacterianos/uso terapéutico , Anticuerpos Monoclonales Humanizados/uso terapéutico , Biomarcadores/sangre , Complemento C3/análisis , Factor H de Complemento/genética , Análisis Mutacional de ADN , Infecciones por Escherichia coli/complicaciones , Infecciones por Escherichia coli/diagnóstico , Infecciones por Escherichia coli/tratamiento farmacológico , Marcadores Genéticos , Predisposición Genética a la Enfermedad , Síndrome Hemolítico-Urémico/sangre , Síndrome Hemolítico-Urémico/diagnóstico , Síndrome Hemolítico-Urémico/tratamiento farmacológico , Heterocigoto , Humanos , Factores Inmunológicos/uso terapéutico , Masculino , Vacunas Meningococicas/uso terapéutico , Fenotipo , Factores de Riesgo , Resultado del TratamientoRESUMEN
UNLABELLED: The clinical management of vesicoureteric reflux includes observational, medical and surgical procedures. The choice of management is often a joint decision made between the paediatric nephrologist and urologist. The use of prophylactic antibiotics has become increasingly debated. In recent years, the surgical treatment of reflux (including endoscopic intervention or ureteral reimplantation) has mainly been limited to cases of high-grade reflux. There are several important risk factors that influence the final outcome which need to be identified and treated. The aim of reflux management is no longer to treat imperatively, but rather to avoid renal damage. It is perhaps time to revise the classic saying 'diagnosed reflux - treated reflux' with a new objective 'diagnosed reflux - evaluated reflux'. CONCLUSION: The management and follow-up of childhood reflux is a joint decision between the paediatric urologist and nephrologist and should be decided on a case-by-case basis.