Síndrome Hemolítico Urémico Atípico Primarioincidencia, manifestaciones clínicas, substrato genético, evolución, pronóstico y respuesta al tratamiento en una cohorte de 48 pacientes

Abstract

Primary atypical hemolytic uremic syndrome is a complement-mediated microangiopathy. We studied presentation, evolution and prognosis in relation to age, sex, and genetic disorders in a cohort of 48 patients with this diagnostic in the Universitary Hospital A Coruña. 40 adults, 25 women, 39 sporadic. Adults had with higher frequency Hb <11g/dl, lower LDH values, higher creatinine levels, higher dialysis frequency and of HTA. Plasmatic creatinine was higher in women. 57% of the 37 studied presented genetic variants, 11 not previously described.94% had hematological recovery, 48% went on dialysis. The renal survival at 1, 5 and 10 years was 56%, 53% and 50% respectively. All patients with eculizumab abandoned dialysis (80% fully recovered renal function) (NNT = 1.96). 21% had recurrence in the native kidneys and 46% in the grafts, which conditioned 91% of the losses. 19 patients received 26 grafts. Those treated with eculizumab did not experience recurrence and maintain a functioning graft. Total mortality 14%. Survival of patients at 1, 5 and 10 years, 98%, 96% and 90% respectively. At the end of the follow-up 45% maintain complete renal function, 19% have functioning grafts and 23% remain on dialysis.