{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T23:03:38Z","timestamp":1790895818606,"version":"4.1.0"},"reference-count":22,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2020,6,16]],"date-time":"2020-06-16T00:00:00Z","timestamp":1592265600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["NSFC\u20108182207"],"award-info":[{"award-number":["NSFC\u20108182207"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2020,8]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Mutations in\n                      <jats:italic>COQ8B<\/jats:italic>\n                      (*615567) as a defect of coenzyme Q10 (CoQ10) cause steroid resistant nephrotic syndrome (SRNS).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      To define the clinical course and prognosis of COQ8B nephropathy, we retrospectively assessed the genotype and phenotype in patients with\n                      <jats:italic>COQ8B<\/jats:italic>\n                      mutations from Chinese Children Genetic Kidney Disease Database. We performed the comparing study of renal outcome following CoQ10 treatment and renal transplantation between early genetic detection and delayed genetic detection group.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      We identified 20 (5.8%) patients with biallelic mutations of\n                      <jats:italic>COQ8B<\/jats:italic>\n                      screening for patients with SRNS, non\u2010nephrotic proteinuria, or chronic kidney disease (CKD) of unknown origin. Patients with\n                      <jats:italic>COQ8B<\/jats:italic>\n                      mutations showed a largely renal\u2010limited phenotype presenting with proteinuria and\/or advanced CKD at the time of diagnosis. Renal biopsy uniformly showed focal segmental glomerulosclerosis. Proteinuria was decreased, whereas the renal function was preserved in five patients following CoQ10 administration combined with angiotensin\u2010converting enzyme (ACE) inhibitor. The renal survival analysis disclosed a significantly better outcome in early genetic detection group than in delayed genetic detection group (Kaplan\u2013Meier plot and log rank test,\n                      <jats:italic>p<\/jats:italic>\n                      \u00a0=\u00a0.037). Seven patients underwent deceased donor renal transplantation without recurrence of proteinuria or graft failure. Blood pressure showed decreased significantly during 6 to 12\u00a0months post transplantation.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      <jats:italic>COQ8B<\/jats:italic>\n                      mutations are one of the most common causes of adolescent\u2010onset proteinuria and\/or CKD of unknown etiology in the Chinese children. Early detection of COQ8B nephropathy following CoQ10 supplementation combined with ACE inhibitor could slow the progression of renal dysfunction. Renal transplantation in patients with\n                      <jats:italic>COQ8B<\/jats:italic>\n                      nephropathy showed no recurrence of proteinuria.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mgg3.1360","type":"journal-article","created":{"date-parts":[[2020,6,16]],"date-time":"2020-06-16T04:31:39Z","timestamp":1592281899000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":23,"title":["COQ8B nephropathy: Early detection and optimal treatment"],"prefix":"10.1002","volume":"8","author":[{"given":"Xiaoxiang","family":"Song","sequence":"first","affiliation":[{"name":"Department of Nephrology Children's Hospital of Fudan University National Pediatric Medical Center of China Shanghai China"},{"name":"Department of Rheumatology and Immunology Children\u2019s Hospital of Soochou University Suzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaoyan","family":"Fang","sequence":"additional","affiliation":[{"name":"Department of Nephrology Children's Hospital of Fudan University National Pediatric Medical Center of China Shanghai China"},{"name":"Shanghai Kidney Development and Pediatric Kidney Disease Research Center Shanghai China"},{"name":"Shanghai Key Laboratory of Birth Defect Children's Hospital of Fudan University Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaoshan","family":"Tang","sequence":"additional","affiliation":[{"name":"Department of Nephrology Children's Hospital of Fudan University National Pediatric Medical Center of China Shanghai China"},{"name":"Shanghai Kidney Development and Pediatric Kidney Disease Research Center Shanghai China"},{"name":"Shanghai Key Laboratory of Birth Defect Children's Hospital of Fudan University Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qi","family":"Cao","sequence":"additional","affiliation":[{"name":"Department of Nephrology Children's Hospital of Fudan University National Pediatric Medical Center of China Shanghai China"},{"name":"Shanghai Kidney Development and Pediatric Kidney Disease Research Center Shanghai China"},{"name":"Shanghai Key Laboratory of Birth Defect Children's Hospital of Fudan University Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yihui","family":"Zhai","sequence":"additional","affiliation":[{"name":"Department of Nephrology Children's Hospital of Fudan University National Pediatric Medical Center of China Shanghai China"},{"name":"Shanghai Kidney Development and Pediatric Kidney Disease Research Center Shanghai China"},{"name":"Shanghai Key Laboratory of Birth Defect Children's Hospital of Fudan University Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jing","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Nephrology Children's Hospital of Fudan University National Pediatric Medical Center of China Shanghai China"},{"name":"Shanghai Kidney Development and Pediatric Kidney Disease Research Center Shanghai China"},{"name":"Shanghai Key Laboratory of Birth Defect Children's Hospital of Fudan University Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jialu","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Nephrology Children's Hospital of Fudan University National Pediatric Medical Center of China Shanghai China"},{"name":"Shanghai Kidney Development and Pediatric Kidney Disease Research Center Shanghai China"},{"name":"Shanghai Key Laboratory of Birth Defect Children's Hospital of Fudan University Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhiqing","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Nephrology Children's Hospital of Fudan University National Pediatric Medical Center of China Shanghai China"},{"name":"Shanghai Kidney Development and Pediatric Kidney Disease Research Center Shanghai China"},{"name":"Shanghai Key Laboratory of Birth Defect Children's Hospital of Fudan University Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tianchao","family":"Xiang","sequence":"additional","affiliation":[{"name":"Department of Nephrology Children's Hospital of Fudan University National Pediatric Medical Center of China Shanghai China"},{"name":"Shanghai Kidney Development and Pediatric Kidney Disease Research Center Shanghai China"},{"name":"Shanghai Key Laboratory of Birth Defect Children's Hospital of Fudan University Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yanyan","family":"Qian","sequence":"additional","affiliation":[{"name":"Clinical Genetic Center Children\u2019s Hospital of Fudan University Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bingbing","family":"Wu","sequence":"additional","affiliation":[{"name":"Clinical Genetic Center Children\u2019s Hospital of Fudan University Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9992-6457","authenticated-orcid":false,"given":"Huijun","family":"Wang","sequence":"additional","affiliation":[{"name":"Clinical Genetic Center Children\u2019s Hospital of Fudan University Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8956-7238","authenticated-orcid":false,"given":"Wenhao","family":"Zhou","sequence":"additional","affiliation":[{"name":"Clinical Genetic Center Children\u2019s Hospital of Fudan University Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cuihua","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Nephrology and Rheumatology Children's Hospital Affiliated to Zhengzhou University Zheng Zhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qian","family":"Shen","sequence":"additional","affiliation":[{"name":"Department of Nephrology Children's Hospital of Fudan University National Pediatric Medical Center of China Shanghai China"},{"name":"Shanghai Kidney Development and Pediatric Kidney Disease Research Center Shanghai China"},{"name":"Shanghai Key Laboratory of Birth Defect Children's Hospital of Fudan University Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hong","family":"Xu","sequence":"additional","affiliation":[{"name":"Department of Nephrology Children's Hospital of Fudan University National Pediatric Medical Center of China Shanghai China"},{"name":"Shanghai Kidney Development and Pediatric Kidney Disease Research Center Shanghai China"},{"name":"Shanghai Key Laboratory of Birth Defect Children's Hospital of Fudan University Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2839-3419","authenticated-orcid":false,"given":"Jia","family":"Rao","sequence":"additional","affiliation":[{"name":"Department of Nephrology Children's Hospital of Fudan University National Pediatric Medical Center of China Shanghai China"},{"name":"Shanghai Kidney Development and Pediatric Kidney Disease Research Center Shanghai China"},{"name":"Shanghai Key Laboratory of Birth Defect Children's Hospital of Fudan University Shanghai China"},{"name":"State Key Laboratory of Medical Neurobiology Institutes of Brain Science and School of Basic Medical Science Fudan University Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,6,16]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI69000"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00467\u2010017\u20103634\u20103"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140\u20106736(03)14184\u20100"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1161\/HYP.0000000000000007"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/ajh\/hpx092"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI45693"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/14651858.CD007435.pub3"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1681\/asn.2010010029"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2016.190"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2014121240"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.7326\/0003\u20104819\u2010139\u20102\u2010200307150\u201000013"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1086\/510023"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.283.5.633"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1523\u20101755.2005.09406.x"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1097\/00007890\u2010200202150\u201000013"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.1086\/500092"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13606"},{"key":"e_1_2_11_19_1","doi-asserted-by":"publisher","DOI":"10.7326\/0003\u20104819\u2010158\u201011\u2010201306040\u201000007"},{"key":"e_1_2_11_20_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00467\u2010012\u20102382\u20107"},{"key":"e_1_2_11_21_1","doi-asserted-by":"publisher","DOI":"10.1592\/phco.21.9.797.34564"},{"key":"e_1_2_11_22_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrneph.2015.205"},{"key":"e_1_2_11_23_1","doi-asserted-by":"publisher","DOI":"10.1097\/HJH.0000000000000062"}],"container-title":["Molecular Genetics &amp; Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmgg3.1360","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.1360","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mgg3.1360","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.1360","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,2,21]],"date-time":"2024-02-21T06:20:11Z","timestamp":1708496411000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.1360"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,6,16]]},"references-count":22,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2020,8]]}},"alternative-id":["10.1002\/mgg3.1360"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.1360","archive":["Portico"],"relation":{"has-preprint":[{"id-type":"doi","id":"10.21203\/rs.3.rs-16568\/v1","asserted-by":"object"}]},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"value":"2324-9269","type":"print"},{"value":"2324-9269","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,6,16]]},"assertion":[{"value":"2020-03-23","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-05-26","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-06-16","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e1360"}}