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Atypical hemolytic–uremic syndrome

recurrent phenotypic expression of a patient with MCP gene mutation combined with risk haplotypes

Marini, Sandra Casal; Gomes, Marília; Guilherme, Raquel; Carda, José P.; Pinto, Catarina Silva; Fidalgo, Teresa; Ribeiro, Maria Letícia

Blood Coagulation & Fibrinolysis: March 2019 - Volume 30 - Issue 2 - p 68–70
doi: 10.1097/MBC.0000000000000793
CASE REPORTS
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We bring the case of a 38-year-old man who was presented to the emergency department with nausea, fever, and choluria, 4 days after the ingestion of raw oysters. Analytical study revealed thrombocytopenia and acute kidney injury that were associated to a possible thrombotic microangiopathy. Therapeutic plasma exchange was started and resolution of the manifestations was obtained. To identify the cause of the thrombotic microangiopathy a molecular study was performed and a pathogenic variant in the MCP gene, c.287-2A>G (splice acceptor) in heterozygous state with a concomitant presence of both risk haplotypes, MCPggaac and Complement factor H (CFH)-H3 were identified. These findings make the diagnosis of atypical hemolytic–uremic syndrome (aHUS), and despite a relatively benign course with a positive response to plasma exchange without an evolution to renal failure was evident a recurrent profile of aHUS when associated with an infectious trigger.

Department of Clinical Haematology, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal

Correspondence to Sandra Casal Marini, MD, Department of Clinical Haematology, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal E-mail: scasalmarini@gmail.com

Received 18 September, 2018

Revised 18 December, 2018

Accepted 21 December, 2018

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