Thrombotic microangiopathy with renal involvement: Case report and considerations on differential diagnosis and treatment

Marco Manganaro, Savino Sciascia, Ernesto Turello, Brigida Brezzi, Franco Dallavalle, Massimo Pini, Silvana Tedeschi, Mario Bazzan, Dario Roccatello


The first approach to a patient with thrombotic microangiopathy (TMA) involves differentiating thrombotic thrombocytopenic purpura (TTP) from hemolytic uremic syndrome (HUS), since both pathogenesis and treatment differ. Case-by-case decision making based on all the clinical, laboratory and response-to-therapy criteria can result in an accurate diagnosis, leading to the most appropriate therapy and a better chance of improving clinical outcome while preserving organ function. We report the case of a 21-year-old female admitted for TMA characterized by severe renal involvement and no neurological symptoms. Clinical onset occurred after a three-day long episode of diarrhea. First analysis showed no evidence of shiga toxin-producing E. Coli (STEC) and revealed severely deficient ADAMTS13 activity, which is common in TTP. After an initial response to steroids and plasma exchange therapy (PEX), the patient became PEX-dependent. A complete remission and PEX-independence was achieved by a B cell depletion therapy with Rituximab. Results of the subsequent genetic analysis showed a new heterozygous variant p.Arg448Leu, as an isolated mutation, in the complement factor I gene.

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Case Reports in Internal Medicine

ISSN 2332-7243(Print)  ISSN 2332-7251(Online)

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