{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,30]],"date-time":"2026-06-30T03:50:39Z","timestamp":1782791439363,"version":"3.54.5"},"reference-count":6,"publisher":"Wiley","issue":"S1","license":[{"start":{"date-parts":[[2017,2,7]],"date-time":"2017-02-07T00:00:00Z","timestamp":1486425600000},"content-version":"vor","delay-in-days":6,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Nephrology"],"published-print":{"date-parts":[[2017,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Disorders in the regulation of the alternate complement pathway often result in complement\u2010mediated damage to the microvascular endothelium and can be associated with both glomerulonephritis and atypical haemolytic uraemic syndrome. Inherited defects in complement regulatory genes or autoantibodies against complement regulatory proteins are predictive of the severity of the disease and the risk of recurrence post kidney transplantation. Heterozygous mutations in <jats:italic>CD46,<\/jats:italic> which codes for a transmembrane cofactor glycoprotein membrane cofactor protein, usually have a lower incidence of end\u2010stage kidney disease and decreased risk of recurrent disease post transplant, as wild\u2010type membrane cofactor protein is present in the transplanted kidney. However, some patients with <jats:italic>CD46<\/jats:italic> mutations have a second variant in other complement regulatory genes increasing the severity of disease. The following case report illustrates the course of a young adult patient with end\u2010stage kidney disease initially ascribed to seronegative systemic lupus erythematosus, who presented with biopsy\u2010proven thrombotic microangiopathy following kidney transplantation. It highlights the complexity associated with disorders of complement regulation and the need for a high index of suspicion and genetic testing in patients who present with thrombotic microangiopathy post\u2010transplant.<\/jats:p>","DOI":"10.1111\/nep.12933","type":"journal-article","created":{"date-parts":[[2017,2,8]],"date-time":"2017-02-08T04:56:29Z","timestamp":1486529789000},"page":"11-14","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Recurrent atypical haemolytic uraemic syndrome post kidney transplant due to a <i>CD46<\/i> mutation in the setting of <i>SMARCAL1\u2010<\/i>mediated inherited kidney disease"],"prefix":"10.1111","volume":"22","author":[{"given":"Samuel","family":"Chan","sequence":"first","affiliation":[{"name":"Queensland Renal Transplant Service Princess Alexandra Hospital  Brisbane Queensland Australia"},{"name":"School of Medicine The University of Queensland  Brisbane Queensland Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew J","family":"Mallett","sequence":"additional","affiliation":[{"name":"School of Medicine The University of Queensland  Brisbane Queensland Australia"},{"name":"Kidney Health Service Royal Brisbane and Women's Hospital, Metro North and Hospital Health Service  Brisbane Queensland Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chirag","family":"Patel","sequence":"additional","affiliation":[{"name":"Genetic Health Queensland Royal Brisbane and Women's Hospital, Metro North and Hospital Health Service  Brisbane Queensland Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ross S","family":"Francis","sequence":"additional","affiliation":[{"name":"Queensland Renal Transplant Service Princess Alexandra Hospital  Brisbane Queensland Australia"},{"name":"School of Medicine The University of Queensland  Brisbane Queensland Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David W","family":"Johnson","sequence":"additional","affiliation":[{"name":"Queensland Renal Transplant Service Princess Alexandra Hospital  Brisbane Queensland Australia"},{"name":"School of Medicine The University of Queensland  Brisbane Queensland Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David W","family":"Mudge","sequence":"additional","affiliation":[{"name":"Queensland Renal Transplant Service Princess Alexandra Hospital  Brisbane Queensland Australia"},{"name":"School of Medicine The University of Queensland  Brisbane Queensland Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicole M","family":"Isbel","sequence":"additional","affiliation":[{"name":"Queensland Renal Transplant Service Princess Alexandra Hospital  Brisbane Queensland Australia"},{"name":"School of Medicine The University of Queensland  Brisbane Queensland Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,2,7]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrneph.2010.85"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra1108178"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(10)60670-8"},{"key":"e_1_2_8_5_1","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1681\/ASN.V122297","article-title":"The molecular basis of familial haemolytic uraemic syndrome: mutation analysis of factor H gene reveals a hot spot in short consensus repeat 20","volume":"20","author":"Caprioli J","year":"2001","journal-title":"J. Am. Soc. Nephrol."},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrneph.2010.155"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.2135497100"}],"container-title":["Nephrology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fnep.12933","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/nep.12933","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,29]],"date-time":"2023-09-29T14:13:45Z","timestamp":1695996825000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/nep.12933"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,2]]},"references-count":6,"journal-issue":{"issue":"S1","published-print":{"date-parts":[[2017,2]]}},"alternative-id":["10.1111\/nep.12933"],"URL":"https:\/\/doi.org\/10.1111\/nep.12933","archive":["Portico"],"relation":{},"ISSN":["1320-5358","1440-1797"],"issn-type":[{"value":"1320-5358","type":"print"},{"value":"1440-1797","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,2]]},"assertion":[{"value":"2017-02-07","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}