{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,25]],"date-time":"2025-09-25T16:23:11Z","timestamp":1758817391611,"version":"3.44.0"},"reference-count":7,"publisher":"BMJ","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["BMJ Case Reports"],"abstract":"<jats:p>Atypical haemolytic uraemic syndrome (aHUS), unlike typical HUS is due to complement dysregulation. At least one abnormality of the complement system can be identified in 70% of patients. aHUS is associated with a poor prognosis with 25% mortality and 50% progress to end-stage renal disease. Genetic abnormalities in the complement system, proteins including <jats:italic>CFH<\/jats:italic>, <jats:italic>CFI<\/jats:italic>, <jats:italic>CFB<\/jats:italic>, <jats:italic>C3<\/jats:italic>, <jats:italic>CFHR1\/3<\/jats:italic> and <jats:italic>MCP<\/jats:italic> (<jats:italic>CD46<\/jats:italic>) lead to uncontrolled complement activation in aHUS. We presented the second reported case of aHUS associated with a heterozygous c.191G &gt; T mutation in exon 2 of <jats:italic>MCP<\/jats:italic> who responded rapidly to plasma exchange.<\/jats:p>","DOI":"10.1136\/bcr-2013-200980","type":"journal-article","created":{"date-parts":[[2013,9,4]],"date-time":"2013-09-04T07:14:36Z","timestamp":1378278876000},"page":"bcr2013200980","source":"Crossref","is-referenced-by-count":8,"title":["Rapid recovery of membrane cofactor protein (<i>MCP<\/i>; <i>CD46<\/i>) associated atypical haemolytic uraemic syndrome with plasma exchange"],"prefix":"10.1136","volume":"2013","author":[{"given":"Victoria Louise","family":"Reid","sequence":"first","affiliation":[{"name":"Department of General Medicine, NHS Grampian, Aberdeen, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adam","family":"Mullan","sequence":"additional","affiliation":[{"name":"Department of Renal Medicine, NHS Grampian, Aberdeen, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lars-Peter","family":"Erwig","sequence":"additional","affiliation":[{"name":"University of Aberdeen, Aberdeen, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2013,9,4]]},"reference":[{"key":"2025082801385301000_2013.sep04_1.bcr2013200980.1","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1186\/1750-1172-6-60","article-title":"Atypical haemolytic uremic syndrome","volume":"2013","author":"Loirat","year":"2011","journal-title":"Orphanet J Rare Dis"},{"key":"2025082801385301000_2013.sep04_1.bcr2013200980.2","doi-asserted-by":"crossref","first-page":"1035","DOI":"10.1681\/ASN.2004100861","article-title":"Haemolytic uremic syndrome","volume":"2013","author":"Noris","year":"2005","journal-title":"J Am Soc Nephrol"},{"key":"2025082801385301000_2013.sep04_1.bcr2013200980.3","doi-asserted-by":"crossref","first-page":"976","DOI":"10.1053\/j.ajkd.2004.02.010","article-title":"Non-enteropathic haemolytic uremic syndrome: causes and short-term course","volume":"2013","author":"Constantinescu","year":"2004","journal-title":"Am J Kidney Dis"},{"key":"2025082801385301000_2013.sep04_1.bcr2013200980.4","doi-asserted-by":"crossref","first-page":"1676","DOI":"10.1056\/NEJMra0902814","article-title":"Atypical haemolytic-uraemia syndrome","volume":"2013","author":"Noris","year":"2009","journal-title":"N Engl J Med"},{"key":"2025082801385301000_2013.sep04_1.bcr2013200980.5","doi-asserted-by":"crossref","first-page":"965","DOI":"10.1007\/s00431-008-0745-7","article-title":"What's new in haemolytic uraemic syndrome?","volume":"2013","author":"Johnson","year":"2008","journal-title":"Eur J Pediatr"},{"key":"2025082801385301000_2013.sep04_1.bcr2013200980.6","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1016\/j.molimm.2006.07.004","article-title":"Implications of the initial mutations in membrane cofactor protein (MCP; CD46) leading to atypical haemolytic uremic syndrome","volume":"2013","author":"Richards","year":"2007","journal-title":"Mol Immunoly"},{"key":"2025082801385301000_2013.sep04_1.bcr2013200980.7","doi-asserted-by":"crossref","first-page":"2752","DOI":"10.1093\/ndt\/gfp166","article-title":"Varicella as a trigger of atypical haemolytic uraemic syndrome associated with complement dysfunction: two cases","volume":"2013","author":"Kwon","year":"2009","journal-title":"Nephrol Dial Transplant"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2013-200980","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T08:39:06Z","timestamp":1756370346000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2013-200980"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,9,4]]},"references-count":7,"alternative-id":["10.1136\/bcr-2013-200980"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2013-200980","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2013,9,4]]}}}