{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T19:46:45Z","timestamp":1790192805179,"version":"4.1.0"},"reference-count":44,"publisher":"S. Karger AG","issue":"4","license":[{"start":{"date-parts":[[2021,1,1]],"date-time":"2021-01-01T00:00:00Z","timestamp":1609459200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2021,1,1]],"date-time":"2021-01-01T00:00:00Z","timestamp":1609459200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Nephron"],"published-print":{"date-parts":[[2021]]},"abstract":"<jats:p>&lt;b&gt;&lt;i&gt;Background:&lt;\/i&gt;&lt;\/b&gt; Atypical hemolytic uremic syndrome (aHUS) is a rare but critical illness. To this date, few studies have reported on the disease in Chinese children. &lt;b&gt;&lt;i&gt;Methods:&lt;\/i&gt;&lt;\/b&gt; We studied a Chinese pediatric cohort to delineate the clinical characteristics, genotypes, and prognosis. Ninety-one patients with aHUS were enrolled in this study. &lt;b&gt;&lt;i&gt;Results:&lt;\/i&gt;&lt;\/b&gt; Fifty-nine children (64.8%) had anti-complement-factor-H autoantibody-associated aHUS (anti-CFH aHUS). Of these children, 21 (46.7%) had complement factor-H-related protein 1 (CFHR1) homozygous deletion, and most patients with CFHR1 homozygous deletion also had complement factor-H-related protein 3 (CFHR3) homozygous deletions (76.2%). Using gene sequencing of 15 candidate genes, we identified 14 genetic variants in 46 aHUS patients, including 5 pathogenic or like pathogenic variants and 9 variants of uncertain significance. The average follow-up time was 46.1 \u00b1 28 months. Among patients with anti-CFH aHUS, there was a correlation between CFHR1 homozygous deletion and patients with persistent proteinuria (odds ratio [OR] 6.954, 95% confidence interval [CI] 1.033\u201346.821, &lt;i&gt;p&lt;\/i&gt; = 0.046). As of the last follow-up, ESRD or deaths occurred in 3.6% of the children with anti-CFH aHUS and 26.7% of children with aHUS who were negative for anti-CFH. &lt;b&gt;&lt;i&gt;Conclusions:&lt;\/i&gt;&lt;\/b&gt; Anti-complement-factor-H antibody positivity is the main cause of morbidity in Chinese children with aHUS. There may be a correlation between CFHR1 homozygous deletion and persistent proteinuria. Comprehensive assessment of anti-CFH antibodies and genetic variants is essential for the management of aHUS children. <\/jats:p>","DOI":"10.1159\/000513009","type":"journal-article","created":{"date-parts":[[2021,4,19]],"date-time":"2021-04-19T21:03:17Z","timestamp":1618866197000},"page":"415-427","source":"Crossref","is-referenced-by-count":8,"title":["Clinical and Genetic Characteristics of Atypical Hemolytic Uremic Syndrome in Children: A Chinese Cohort Study"],"prefix":"10.1159","volume":"145","author":[{"given":"Dan","family":"Wu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiahui","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chen","family":"Ling","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhi","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jianfeng","family":"Fan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qiang","family":"Sun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qun","family":"Meng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9724-6493","authenticated-orcid":false,"given":"Xiaorong","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2021,4,19]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra0902814"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1016\/j.kint.2018.02.029"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1016\/j.semnephrol.2013.08.003"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1055\/s-0034-1375296"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.2010.08295.x"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1111\/ajt.12077"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1007\/s11825-018-0216-0"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1038\/ki.2013.373"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1111\/imm.12916"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.2215\/CJN.04760512"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1111\/ped.12549"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M114.630871"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-016-3562-7"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.4049\/jimmunol.1200679"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1093\/ndt\/gfy033"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1186\/s12882-018-0952-z"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-009-1415-3"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(02)08560-4"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1016\/j.imbio.2013.06.004"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.9.676"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddi066"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2012090884"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.1007\/s12185-014-1655-2"},{"key":"ref24","doi-asserted-by":"publisher","DOI":"10.1002\/rth2.12016"},{"key":"ref25","doi-asserted-by":"publisher","DOI":"10.1016\/j.molimm.2012.12.006"},{"key":"ref26","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2741"},{"key":"ref27","doi-asserted-by":"publisher","DOI":"10.3389\/fimmu.2019.01282"},{"key":"ref28","doi-asserted-by":"publisher","DOI":"10.1038\/nrneph.2016.99"},{"key":"ref29","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0060352"},{"key":"ref30","doi-asserted-by":"publisher","DOI":"10.1016\/j.molimm.2015.12.005"},{"key":"ref31","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-018-4074-4"},{"key":"ref32","doi-asserted-by":"publisher","DOI":"10.1093\/ndt\/gfp388"},{"key":"ref33","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2010030315"},{"key":"ref34","doi-asserted-by":"publisher","DOI":"10.5414\/CN107777"},{"key":"ref35","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2009-02-205641"},{"key":"ref36","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-6-60"},{"key":"ref37","doi-asserted-by":"publisher","DOI":"10.1016\/j.transci.2016.04.011"},{"key":"ref38","doi-asserted-by":"publisher","DOI":"10.2215\/CJN.02210310"},{"key":"ref39","doi-asserted-by":"publisher","DOI":"10.3389\/fimmu.2019.00853"},{"key":"ref40","doi-asserted-by":"publisher","DOI":"10.2215\/CJN.01260212"},{"key":"ref41","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2009-05-223834"},{"key":"ref42","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2009-05-221549"},{"key":"ref43","doi-asserted-by":"publisher","DOI":"10.1016\/j.kint.2017.04.028"},{"key":"ref44","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-012-2131-y"}],"container-title":["Nephron"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/513009","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/513009","content-type":"unspecified","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