Reis Sofia, Ramos Daniela, Cordinhã Carolina, Gomes Clara
Serviço de Pediatria. Centro Hospitalar Tondela-Viseu. Viseu. Portugal.
Hospital Pediátrico. Centro Hospitalar e Universitário de Coimbra. Coimbra.
Acta Med Port. 2019 Oct 1;32(10):673-675. doi: 10.20344/amp.10021.
The atypical hemolytic uremic syndrome comprises a thrombotic microangiopathy resulting from the complement alternate pathway hyperactivation. Its severity requires early diagnosis and treatment. The differential diagnosis includes typical hemolytic uremic syndrome (associated with Shiga toxin) and thrombotic thrombocytopenic purpura (associated with deficient activity of ADAMTS13). The only specific treatment currently available for atypical hemolytic uremic syndrome is eculizumab. We describe the case of a child with atypical hemolytic uremic syndrome diagnosed in the context of bloody diarrhea, complicated by neurological involvement that posed several diagnostic and therapeutic challenges.
非典型溶血尿毒综合征是一种由补体替代途径过度激活引起的血栓性微血管病。其严重性需要早期诊断和治疗。鉴别诊断包括典型溶血尿毒综合征(与志贺毒素相关)和血栓性血小板减少性紫癜(与ADAMTS13活性缺乏相关)。目前非典型溶血尿毒综合征唯一可用的特异性治疗药物是依库珠单抗。我们描述了一例在血性腹泻背景下诊断为非典型溶血尿毒综合征的儿童病例,该病例并发神经受累,带来了诸多诊断和治疗挑战。