RESUMO
Caso clínico: Varón joven con síndrome hemolítico urémico atípico (SHUa) complicado con la presencia de desprendimientos serosos retinianos bilaterales (DSR), múltiples exudados algodonosos y una oclusión de rama arterial. El tratamiento con terapia plasmática, hemodiálisis y posteriormente con eculizumab, permitió una rápida normalización de los parámetros sanguíneos y urinarios y la resolución de las alteraciones retinianas. El análisis genético mostró 2 mutaciones en el factor H y C3 del sistema complemento. Discusión: El síndrome hemolítico urémico (SHU) es una microangiopatía trombótica con anemia hemolítica, trombocitopenia e insuficiencia renal aguda, que se denomina atípico cuando está causado por una alteración genética del sistema complemento. La afectación ocular es una rara manifestación de este infrecuente síndrome (AU)
Case report: The case is presented of a young man with an atypical haemolytic-uraemic syndrome (aHUS), complicated with bilateral serous retinal detachment, cotton wool spots, and a branch artery occlusion. Treatment with plasmapheresis, haemodialysis and systemic eculizumab led to the blood and urine parameters returning to normal, as well as resolution of the retinal anomalies. Genetic analysis show both mutations in complement factor H and C3. Discussion: Haemolytic-uraemic syndrome (HUS) is a thrombotic microangiopathy characterised by microangiopathic haemolytic anaemia, thrombocytopenia, and acute renal failure. Atypical HUS is caused by genetic mutation of complement system. Ocular involvement is an unusual manifestation of this rare syndrome (AU)
Assuntos
Humanos , Masculino , Adulto , Síndrome Hemolítico-Urêmica Atípica/complicações , Descolamento Retiniano/complicações , Anticorpos Monoclonais/uso terapêutico , Plasmaferese , Diálise RenalRESUMO
CASE REPORT: The case is presented of a young man with an atypical haemolytic-uraemic syndrome (aHUS), complicated with bilateral serous retinal detachment, cotton wool spots, and a branch artery occlusion. Treatment with plasmapheresis, haemodialysis and systemic eculizumab led to the blood and urine parameters returning to normal, as well as resolution of the retinal anomalies. Genetic analysis show both mutations in complement factor H and C3. DISCUSSION: Haemolytic-uraemic syndrome (HUS) is a thrombotic microangiopathy characterised by microangiopathic haemolytic anaemia, thrombocytopenia, and acute renal failure. Atypical HUS is caused by genetic mutation of complement system. Ocular involvement is an unusual manifestation of this rare syndrome.
