Résumé
RESUMEN El síndrome urémico hemolítico (SUH) se caracteriza por la presencia de anemia hemolítica, plaquetopenia e insuficiencia renal aguda. Si bien se distingue clásicamente en típico o infeccioso y atípico, es menester reconocer situaciones clínicas en las que se pone de manifiesto, como por ejemplo, embarazo, puerperio inmediato, tumores, trasplante, drogas, etc., condiciones clínicas que han sido denominadas amplificadoras del complemento. La recurrencia postrasplante delsíndrome urémico hemolítico atípico (SUHa) ha sido descrita en porcentajes variables en pacientes con mutaciones del factor H, factor B, factor I y C3, y gen de la trombomodulina, en reportes de casos aislados. Se presenta el caso de una paciente con enfermedad renal crónica (ERC) secundaria a agenesia renal, receptora preemptive de un riñón de donante vivo relacionado que presentó disfunción del injerto renal secundaria a microangiopatía trombótica, asociado a complicación neurológica, hemorragias, disfunción orgánica múltiple y óbito. Se describen los hallazgos del estudio genético y anatomopatológico de necropsia.
ABSTRACT Hemolytic uremic syndrome (HUS) is characterized by the presence of hemolytic anemia, thrombocytopenia and acute kidney injury. Although it is usually distinguished as typical or infectious and atypical, it is necessary to recognize clinical situations in which it is revealed, such as pregnancy, immediate postpartum period, tumors, transplantation, drugs, etc., i.e. clinical conditions that have been called complement-amplifying conditions. Post-transplantation recurrence of atypical hemolytic uremic syndrome (aHUS) has been described in variable percentages in patients with mutations of factor H, factor B, factor I and C3, and thrombomodulin gene, in reports of isolated cases. We present the case of a patient with chronic kidney disease (CKD) secondary to renal agenesis, a preemptive recipient of a related living donor kidney, which presented renal graft dysfunction secondary to thrombotic microangiopathy, associated with neurological complications, hemorrhages, multiple organ dysfunction and death. The findings of the genetic and pathological autopsy study are described.
Résumé
ABSTRACT Background: Thrombotic thrombocytopenic purpura (TTP) is a potentially fatal disease that requires early diagnosis and treatment that can be made possible by applying the PLASMIC score. This study aims to evaluate this score applicability for patients with suspected TTP in a developing country. Methods: This was a retrospective study performed at a tertiary hospital in the northeastern region of Brazil. Patients were analyzed in two groups: ADAMTS13 activity <10% and activity >10%. Patients were stratified according to the PLASMIC score, and the level of agreement between the PLASMIC score and the ADAMTS13 activity was evaluated. Results: Eight patients with thrombotic microangiopathy were included. Four patients had ADAMTS13 activity <10%, all with a PLASMIC score =6. The other four had ADAMTS13 activity >10%, all with a score <6. Based on a score =6 for presumptive diagnosis of TTP, we attained a 100% diagnostic accuracy in our sample. The PLASMIC score was also able to accurately predict response to plasma exchange and the risk of long-term unfavorable outcomes. Conclusions: The reproducibility of the PLASMIC score was quite satisfactory in our sample. It accurately discriminates between patients who had ADAMTS13 deficiency and those with normal enzyme activity, precluding the need for specific laboratory evaluation, which is not always available. This score can be useful for an early diagnosis and indicates which patients will benefit from the treatment in developing countries.