{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,27]],"date-time":"2025-04-27T20:40:02Z","timestamp":1745786402395,"version":"3.40.4"},"reference-count":14,"publisher":"BMJ","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Reports"],"accepted":{"date-parts":[[2017,10,11]]},"abstract":"<jats:p>A 42-year-old Hispanic female and long-distance runner was seen for evaluation of fatigue. Her physical examination showed petechiae and ecchymoses in upper extremities, abdominal distension and bilateral ankle oedema. Laboratory workup revealed anaemia, thrombocytopenia, hypoalbuminemia and proteinuria of 1.4\u2009g\/24\u2009hours. No schistocytes were found on peripheral blood smear. CT of her abdomen revealed diffuse small lymphadenopathy and hepatomegaly. Bone marrow biopsy demonstrated normal trilineage hematopoiesis with no hemophagocytosis. The patient was started on oral prednisone with no improvement and was subsequently admitted to the hospital for pulsed steroids, intravenous immunoglobulin and rituximab. Her proteinuria became nephrotic range, and a renal biopsy revealed features of thrombotic microangiopathy limited to the glomerular capillaries. ADAMTS13 was low which is &gt;10% of normal, and a diagnosis of atypical haemolytic\u2013uraemic syndrome (aHUS) was made. Eculizumab was started with prompt response. Whole exome sequencing demonstrated mutation in SPTA1, which has been associated with red blood cell membrane diseases but has not been described in patients with aHUS.<\/jats:p>","DOI":"10.1136\/bcr-2017-221798","type":"journal-article","created":{"date-parts":[[2017,10,30]],"date-time":"2017-10-30T11:20:08Z","timestamp":1509362408000},"page":"bcr-2017-221798","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Complement activation: an atypical presentation of an atypical syndrome"],"prefix":"10.1136","volume":"2017","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9645-9072","authenticated-orcid":false,"given":"Alfredo","family":"Iardino","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Viviane","family":"Bunin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luan D","family":"Truong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hector Alejandro","family":"Preti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2017,10,30]]},"reference":[{"key":"2025042712592570000_2017.oct30_1.bcr-2017-221798.1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1538-7836.2005.01425.x"},{"key":"2025042712592570000_2017.oct30_1.bcr-2017-221798.2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra0902814"},{"key":"2025042712592570000_2017.oct30_1.bcr-2017-221798.3","doi-asserted-by":"crossref","first-page":"2169","DOI":"10.1056\/NEJMoa1208981","article-title":"Terminal complement inhibitor eculizumab in atypical hemolytic\u2013uremic syndrome","volume":"368","author":"Legendre","year":"2013","journal-title":"N Engl J Med Overseas Ed"},{"key":"2025042712592570000_2017.oct30_1.bcr-2017-221798.4","doi-asserted-by":"publisher","DOI":"10.1186\/1741-7015-11-185"},{"key":"2025042712592570000_2017.oct30_1.bcr-2017-221798.5","doi-asserted-by":"crossref","first-page":"802","DOI":"10.1111\/bjh.12907","article-title":"Malignancy and thrombotic microangiopathy or atypical haemolytic and uraemic syndrome?","volume":"166","author":"Favre","year":"2014","journal-title":"Br J Haematol"},{"key":"2025042712592570000_2017.oct30_1.bcr-2017-221798.6","doi-asserted-by":"publisher","DOI":"10.1002\/ajh.20783"},{"key":"2025042712592570000_2017.oct30_1.bcr-2017-221798.7","doi-asserted-by":"crossref","first-page":"667","DOI":"10.1136\/jcp.2003.013979","article-title":"Atypical haemolytic uraemic syndrome as a complication of induction chemotherapy for acute lymphoblastic leukaemia","volume":"57","author":"Chandra","year":"2004","journal-title":"J Clin Pathol"},{"key":"2025042712592570000_2017.oct30_1.bcr-2017-221798.8","first-page":"341","article-title":"A case of atypical hemolytic uremic syndrome","volume":"8","author":"Fallahzadeh","year":"2014","journal-title":"Iran J Kidney Dis"},{"key":"2025042712592570000_2017.oct30_1.bcr-2017-221798.9","first-page":"3","article-title":"Atypical hemolytic uremic syndrome (aHUS): making the diagnosis","volume":"10","author":"Laurence","year":"2012","journal-title":"Clin Adv Hematol Oncol"},{"key":"2025042712592570000_2017.oct30_1.bcr-2017-221798.10","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1111\/ped.12469","article-title":"Autoimmune-type atypical hemolytic uremic syndrome treated with eculizumab as first-line therapy","volume":"57","author":"Hisano","year":"2015","journal-title":"Pediatr Int"},{"key":"2025042712592570000_2017.oct30_1.bcr-2017-221798.11","doi-asserted-by":"publisher","DOI":"10.1055\/s-0034-1375296"},{"key":"2025042712592570000_2017.oct30_1.bcr-2017-221798.12","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2015040385"},{"key":"2025042712592570000_2017.oct30_1.bcr-2017-221798.13","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-010-1555-5"},{"key":"2025042712592570000_2017.oct30_1.bcr-2017-221798.14","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2014-10-609073"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2017-221798","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,27]],"date-time":"2025-04-27T19:59:32Z","timestamp":1745783972000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2017-221798"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,10,30]]},"references-count":14,"alternative-id":["10.1136\/bcr-2017-221798"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2017-221798","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2017,10,30]]}}}