{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,21]],"date-time":"2026-10-21T16:39:35Z","timestamp":1792600775076,"version":"4.5.0"},"reference-count":16,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2026,10,21]],"date-time":"2026-10-21T00:00:00Z","timestamp":1792540800000},"content-version":"vor","delay-in-days":20,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T00:00:00Z","timestamp":1790812800000},"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":[[2026,10]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>COQ8B (formerly ADCK4)\u2010associated glomerulopathy is an autosomal recessive primary coenzyme Q10 deficiency that typically presents with proteinuria, focal segmental glomerulosclerosis and progressive kidney dysfunction during childhood or adolescence. We report extended longitudinal follow\u2010up of a family carrying the homozygous COQ8B c.1339dupG, p.(Glu447Glyfs*10) variant, demonstrating marked intrafamilial phenotypic heterogeneity despite an identical genotype. Two homozygous siblings developed kidney failure in childhood or adolescence and underwent living\u2010related kidney transplantation, with prolonged allograft survival and no clinical recurrence of the native disease. In contrast, a third homozygous sibling was identified through cascade testing at age 24 with preserved kidney function and non\u2010nephrotic proteinuria and has remained free of kidney failure for more than 10\u2009years. The fourth sibling, who was heterozygous, remained clinically unaffected and both heterozygous parental donors maintained normal kidney function without proteinuria during long\u2010term follow\u2010up. This family illustrates the broad clinical spectrum of COQ8B\u2010associated glomerulopathy and shows that identical homozygous variants may be associated with markedly divergent long\u2010term kidney trajectories. Cascade testing may identify mildly affected adults before advanced kidney impairment and should be considered an integral component of familial evaluation in genetically defined glomerular disease.<\/jats:p>","DOI":"10.1111\/nep.70299","type":"journal-article","created":{"date-parts":[[2026,10,21]],"date-time":"2026-10-21T15:48:50Z","timestamp":1792597730000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Familial\n                    <scp>\n                      <i>COQ8B<\/i>\n                    <\/scp>\n                    \u2010Associated Glomerulopathy: Divergent Long\u2010Term Outcomes and Adult Detection Through Cascade Testing"],"prefix":"10.1111","volume":"31","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3162-8760","authenticated-orcid":false,"given":"Zeynep","family":"Ural","sequence":"first","affiliation":[{"name":"Department of Nephrology L\u00f6sante Hospital  Ankara Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9741-6779","authenticated-orcid":false,"given":"\u00dclver","family":"Derici","sequence":"additional","affiliation":[{"name":"Department of Nephrology Gazi University, Faculty of Medicine  Ankara Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,10,21]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI69000"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2014121240"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.kint.2022.02.040"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00467\u2010017\u20103634\u20103"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.24953\/turkjped.2019.05.003"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.kint.2022.04.029"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12882\u2010020\u201002040\u2010z"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1080\/0886022X.2025.2501204"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10157\u2010026\u201002917\u20107"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598\u2010017\u201017564\u2010y"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.1360"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2022.938863"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/petr.14143"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1159\/000550059"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.0000001082"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1093\/ckj\/sfaf044"}],"container-title":["Nephrology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/nep.70299","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/nep.70299","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/nep.70299","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,10,21]],"date-time":"2026-10-21T15:48:51Z","timestamp":1792597731000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/nep.70299"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,10]]},"references-count":16,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2026,10]]}},"alternative-id":["10.1111\/nep.70299"],"URL":"https:\/\/doi.org\/10.1111\/nep.70299","archive":["Portico"],"relation":{},"ISSN":["1320-5358","1440-1797"],"issn-type":[{"value":"1320-5358","type":"print"},{"value":"1440-1797","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,10]]},"assertion":[{"value":"2026-03-29","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-10-14","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-10-21","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e70299"}}