{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,7]],"date-time":"2026-09-07T02:07:49Z","timestamp":1788746869729,"version":"build-2803163510"},"reference-count":15,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2024,9,27]],"date-time":"2024-09-27T00:00:00Z","timestamp":1727395200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2024,9,27]],"date-time":"2024-09-27T00:00:00Z","timestamp":1727395200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Nephrology"],"published-print":{"date-parts":[[2024,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Alport syndrome (AS) is one of the most common inherited kidney disorders, involving pathogenic variants of\n                    <jats:italic>COL4A3, COL4A4<\/jats:italic>\n                    and\n                    <jats:italic>COL4A5<\/jats:italic>\n                    genes that lead to disruption of the normal structure of collagen IV protein through improper chain or heterotrimer folding or degradation of heterotrimer components. Lipoprotein glomerulopathy (LPG) is an autosomal dominant disease involving\n                    <jats:italic>APOE<\/jats:italic>\n                    gene mutations disturbing lipoprotein metabolism. We report the first case with both AS and LPG in an 11\u2010year\u2010old girl. The patient presented with blepharedema, and decreased vision. Laboratory examinations showed hematemesis, proteinuria, hypoproteinemia, hyperlipidemia and progressive renal failure. Renal biopsy showed the changes of LPG and AS. Whole\u2010exome sequencing (WES) identified two pathogenic variants, c.127C\u2009&gt;\u2009T in exon 3 of\n                    <jats:italic>APOE<\/jats:italic>\n                    gene, and c.930\u2009+\u20091G\u2009&gt;\u2009A in exon 15 of\n                    <jats:italic>COL4A4<\/jats:italic>\n                    gene. We emphasize the importance of early completion of renal biopsy and WES for early diagnosis of LPG and AS.\n                  <\/jats:p>","DOI":"10.1111\/nep.14399","type":"journal-article","created":{"date-parts":[[2024,9,27]],"date-time":"2024-09-27T04:16:32Z","timestamp":1727410592000},"page":"985-989","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["First patient diagnosed with lipoprotein glomerulopathy and Alport syndrome"],"prefix":"10.1111","volume":"29","author":[{"given":"Lianlian","family":"Yang","sequence":"first","affiliation":[{"name":"Department of Pediatrics, West China Second University Hospital Sichuan University  Chengdu Sichuan Province China"},{"name":"Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education Sichuan University  Chengdu Sichuan Province China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guang","family":"Yang","sequence":"additional","affiliation":[{"name":"Taiyuan Kingmed Renal Pathology Diagnostic Center Taiyuan Kingmed Center for Clinical Laboratory Co. Ltd  Taiyuan Shanxi Province China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0104-5724","authenticated-orcid":false,"given":"Hui","family":"Guo","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, West China Second University Hospital Sichuan University  Chengdu Sichuan Province China"},{"name":"Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education Sichuan University  Chengdu Sichuan Province China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,9,27]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002\u20109343(81)90571\u20104"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.2215\/cjn.19171220"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.2215\/cjn.04230321"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet\u20102014\u2010102822"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.3389\/fmed.2022.905007"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ki.2013.335"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.arr.2017.06.002"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbadis.2020.165972"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.1.3454.504"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1053\/j.ajkd.2020.03.026"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00441\u2010017\u20102639\u20103"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1089\/hum.2018.205"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1172\/jci75852"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.5732\/cjc.011.10132"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12929\u2010016\u20100309\u20105"}],"container-title":["Nephrology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/nep.14399","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/nep.14399","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/nep.14399","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,9,7]],"date-time":"2026-09-07T01:26:22Z","timestamp":1788744382000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/nep.14399"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,9,27]]},"references-count":15,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2024,12]]}},"alternative-id":["10.1111\/nep.14399"],"URL":"https:\/\/doi.org\/10.1111\/nep.14399","archive":["Portico"],"relation":{},"ISSN":["1320-5358","1440-1797"],"issn-type":[{"value":"1320-5358","type":"print"},{"value":"1440-1797","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,9,27]]},"assertion":[{"value":"2024-04-28","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-09-15","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-09-27","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}