Sepúlveda Rodrigo A, Tagle Rodrigo, Jara Aquiles
Departamento de Nefrología, Escuela de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile.
Rev Med Chil. 2018 Jun;146(6):770-779. doi: 10.4067/s0034-98872018000600770.
Atypical hemolytic uremic syndrome (aHUS) is a rare thrombotic microangiopathy, characterized by microangiopathic hemolytic anemia, thrombocytopenia and renal involvement. It causes end stage renal disease requiring dialysis in most affected patients. It mainly affects young adults (contrary to what was thought years ago). When aHUS is primary, the cause is a genetic mutation in the alternative complement pathway. Instead, secondary aHUS is caused by external factors that trigger the disease by themselves or in combination with a genetic vulnerability. The type of mutation determines the severity of the disease, prognosis, response to therapy and renal transplantation. Advances in the understanding of renal diseases associated with complement defects and the development of specific biologic therapies changed the course of this disease. Eculizumab is internationally approved for the treatment of primary aHUS. Its inhibitory action on the complement cascade leads to hematologic remission and restoration of renal function. We present a review of aHUS detailing its etiology, pathogenesis, clinical presentation, diagnosis and treatment.
非典型溶血性尿毒症综合征(aHUS)是一种罕见的血栓性微血管病,其特征为微血管病性溶血性贫血、血小板减少和肾脏受累。在大多数受影响的患者中,它会导致终末期肾病,需要进行透析。它主要影响年轻人(与多年前的认知相反)。当aHUS为原发性时,病因是替代补体途径中的基因突变。相反,继发性aHUS是由外部因素单独或与遗传易感性共同引发疾病所致。突变类型决定了疾病的严重程度、预后、对治疗的反应以及肾移植情况。对与补体缺陷相关的肾脏疾病的认识进展以及特异性生物疗法的发展改变了这种疾病的进程。依库珠单抗在国际上被批准用于治疗原发性aHUS。其对补体级联反应的抑制作用可导致血液学缓解和肾功能恢复。我们对aHUS进行综述,详细阐述其病因、发病机制、临床表现、诊断和治疗。