Atypical hemolytic uremic syndrome: Unique clinical presentation linked to rare CFHR5 mutation

eJHaem

article

Sofia Menotti¹  Martino Donini¹  Giuseppina Pessolano¹  Livia Tiro¹  Maurizio Cantini³  Jacopo Croce¹  Matteo Morandi¹  Filippo Mazzi¹  Katia Donadello⁴  Oliviero Olivieri¹  Francesco Dima⁵  Sergio De Marchi¹  Giovanni Gambaro¹  Enrico Polati⁴  Lucia De Franceschi¹ 

[1] Department of Medicine, University of Verona and AOUI Verona;Both the authors contributed equally to this work.;Department of Transfusion Medicine, University Hospital;Department of Neuroscience, Biomedicine and Movement, Section of Clinical Biochemistry, University of Verona and AOUI;Department of Surgery, Dentistry, Paediatrics and Gynaecology, University of Verona & AOUI

关键词: complement;    eculizumab;    microangiopathy;    plasmapheresis;   

DOI  :  10.1002/jha2.288

来源: Wiley

【 摘 要 】

In adults, the diagnosis and the clinical management of atypicalhemolytic uremic syndrome is still a challenge for hematologists [1–3].Here, we report a case of a 40-year-old previously healthy man presented to the emergency department with fever (39.6◦C) and bilateral persistent foot pain. He has been 2 days earlier by his primarycare doctor due to lower extremities pain and a sensation of lowbody temperature during physical activity. At admission, he was founddiaphoretic, apyretic (reported paracetamol intake at home), tachycardic, with marbled lower limbs and lack of sensitivity in both feet. Thepatient’s history was negative for recurrent infections, kidney diseases,immune-rheumatological, or cardiovascular disorders. He smoked20 cigarettes/day.

【 授权许可】

Unknown