{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T02:07:01Z","timestamp":1740103621980,"version":"3.37.3"},"reference-count":17,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2017,4,28]],"date-time":"2017-04-28T00:00:00Z","timestamp":1493337600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Clinical Apheresis"],"published-print":{"date-parts":[[2017,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Atypical hemolytic uremic syndrome (aHUS) is a rare disease characterized by thrombocytopenia, microangiopathic hemolytic anemia, and acute kidney failure. The disease is difficult to diagnose due to its similarity with other hematologic disorders, such as thrombotic thrombocytopenic purpura (TTP). However, genetic mutations are found in 50\u201370% of patients with aHUS and can be useful in its diagnosis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Study design and methods<\/jats:title><jats:p>A 40\u2010year\u2010old male presented to our hospital with acute kidney injury, evidenced by high creatinine levels (8.3 mg\/dL) and kidney biopsy results. The patient was preliminarily diagnosed with TTP and therapeutic plasma exchange (TPE) was initiated. After four treatments, TPE was discontinued due to lack of ADAMTS13 activity and inhibitor assay results that were not consistent with TTP, improved hematologic laboratory results, and aHUS genetic testing results.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Next\u2010generation sequencing showed a rare mutation at a splice site in the gene encoding complement factor I (<jats:italic>CFI<\/jats:italic>). Implication of this mutation in aHUS has not been previously described. Treatment with eculizumab reduced creatinine levels below 4.0 mg\/dL, and the patient remained on maintenance dosage of eculizumab (1200 mg\/14 days) to prevent aHUS recurrence.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>An extremely rare, heterozygous mutation in the gene encoding <jats:italic>CFI<\/jats:italic> likely affecting splicing was associated for the first time with aHUS. Sequencing was critical for rapid diagnosis and subsequent timely treatment with eculizumab, which resulted in improved renal function.<\/jats:p><\/jats:sec>","DOI":"10.1002\/jca.21549","type":"journal-article","created":{"date-parts":[[2017,4,29]],"date-time":"2017-04-29T05:05:55Z","timestamp":1493442355000},"page":"584-588","source":"Crossref","is-referenced-by-count":2,"title":["An extremely rare splice site mutation in the gene encoding complement factor I in a patient with atypical hemolytic uremic syndrome"],"prefix":"10.1002","volume":"32","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3554-5521","authenticated-orcid":false,"given":"Tina S.","family":"Ipe","sequence":"first","affiliation":[{"name":"Department of Pathology and Genomic Medicine Houston Methodist Hospital Houston Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jooeun","family":"Lim","sequence":"additional","affiliation":[{"name":"Machaon Diagnostics Oakland California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Meredith Anne","family":"Reyes","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine Baylor College of Medicine Houston Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mike","family":"Ero","sequence":"additional","affiliation":[{"name":"Machaon Diagnostics Oakland California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christopher","family":"Leveque","sequence":"additional","affiliation":[{"name":"Department of Pathology and Genomic Medicine Houston Methodist Hospital Houston Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bradley","family":"Lewis","sequence":"additional","affiliation":[{"name":"Machaon Diagnostics Oakland California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jamey","family":"Kain","sequence":"additional","affiliation":[{"name":"Machaon Diagnostics Oakland California"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,4,28]]},"reference":[{"key":"e_1_2_5_2_1","first-page":"1","article-title":"Atypical hemolytic uremic syndrome (aHUS): making the diagnosis","volume":"10","author":"Laurence J.","year":"2012","journal-title":"Clin Adv Hematol Oncol."},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.semnephrol.2013.08.003"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra0902814"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2013050453"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2013-11-516237"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjh.12718"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2590"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2009-05-221549"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00210743"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1084\/jem.20070301"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddi066"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.febslet.2005.02.047"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.2215\/CJN.04760512"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1208981"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-6-60"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.hoc.2015.02.002"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1182\/asheducation-2012.1.617"}],"container-title":["Journal of Clinical Apheresis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fjca.21549","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jca.21549","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,24]],"date-time":"2023-09-24T16:16:49Z","timestamp":1695572209000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jca.21549"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,4,28]]},"references-count":17,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2017,12]]}},"alternative-id":["10.1002\/jca.21549"],"URL":"https:\/\/doi.org\/10.1002\/jca.21549","archive":["Portico"],"relation":{},"ISSN":["0733-2459","1098-1101"],"issn-type":[{"type":"print","value":"0733-2459"},{"type":"electronic","value":"1098-1101"}],"subject":[],"published":{"date-parts":[[2017,4,28]]}}}