{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,16]],"date-time":"2026-02-16T18:46:01Z","timestamp":1771267561483,"version":"3.50.1"},"reference-count":25,"publisher":"S. Karger AG","issue":"1","license":[{"start":{"date-parts":[[2023,8,23]],"date-time":"2023-08-23T00:00:00Z","timestamp":1692748800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2023,8,23]],"date-time":"2023-08-23T00:00:00Z","timestamp":1692748800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Nephron"],"published-print":{"date-parts":[[2024]]},"abstract":"<b><i>Background:<\/i><\/b> Although most patients with atypical hemolytic uremic syndrome (aHUS) have variants in genes participating in alternative complement pathways, rare variants in non-complement pathway-related genes, including <i>DGKE, INF2, MMACHC, PLG,<\/i> and <i>THBD<\/i>, have also been described. <b><i>Case Presentation:<\/i><\/b> We report an 18-year-old male patient with renal biopsy-proven chronic thrombotic microangiopathy that raised suspicion of aHUS. Whole-exome sequencing revealed a novel pathogenic homozygous <i>MMACHC<\/i> c.484G&gt;T (p.Gly162Trp) variant. Subsequently, clinical and laboratory findings confirmed cobalamin C (Cbl C) deficiency. Also, homozygous missense c.1112C&gt;T <i>PLG<\/i> (p.Thr371Ile) variant was detected (it had been reported as a variant of unknown significance). However, the low serum plasminogen (PLG) activity proved the pathogenicity of c.1112C&gt;T. Hence, the patient was diagnosed with concurrent Cbl C and PLG deficiencies. Segregation analysis revealed that the mother and father had the same heterozygous <i>PLG<\/i> and <i>MMACHC<\/i> variants. <i>PLG<\/i> variants have generally been described in aHUS patients concomitant with complement gene variants in the literature; therefore, the association between aHUS and <i>PLG<\/i> variants is controversial. The possible contribution of PLG deficiency to thrombotic microangiopathy was also discussed in this case. <b><i>Conclusion:<\/i><\/b> Non-complement-mediated aHUS is an exceptional disorder. A limited number of genes are involved in this entity. To our knowledge, this is the first aHUS patient diagnosed with both Cbl C and PLG deficiencies in the literature. <\/jats:p>","DOI":"10.1159\/000533417","type":"journal-article","created":{"date-parts":[[2023,10,11]],"date-time":"2023-10-11T21:03:05Z","timestamp":1697058185000},"page":"54-62","source":"Crossref","is-referenced-by-count":1,"title":["Concurrent Cobalamin C and Plasminogen Deficiencies in a Patient with Chronic Thrombotic Microangiopathy"],"prefix":"10.1159","volume":"148","author":[{"given":"Ahmet Burak","family":"Dirim","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Seda","family":"Safak","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mehmet 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