{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,28]],"date-time":"2025-11-28T00:39:54Z","timestamp":1764290394016,"version":"3.46.0"},"reference-count":15,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2025,11,11]],"date-time":"2025-11-11T00:00:00Z","timestamp":1762819200000},"content-version":"vor","delay-in-days":10,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Nephrology"],"published-print":{"date-parts":[[2025,11]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Medullary sponge kidney (MSK) is a rare congenital renal anomaly characterised by cystic dilatation of the collecting ducts, often asymptomatic but occasionally presenting with hematuria, nephrolithiasis, or urinary tract infections. While familial cases exist, its precise genetic basis remains unclear. The\n                    <jats:italic>TRIM8<\/jats:italic>\n                    gene encodes an E3 ubiquitin ligase involved in regulating cellular proliferation, immune response, and differentiation. Pathogenic\n                    <jats:italic>TRIM8<\/jats:italic>\n                    variants have predominantly been linked to neurodevelopmental disorders and steroid\u2010resistant nephrotic syndrome (SRNS), with or without neurological involvement. Here, we report the case of an 11\u2010year\u2010old boy with incidental proteinuria, later diagnosed with MSK based on ultrasonography showing increased medullary echogenicity. He exhibited persistent nephrotic\u2010range proteinuria despite corticosteroid therapy, accompanied by neurodevelopmental delay. Genetic analysis revealed a heterozygous likely pathogenic c.1193dup (p.Gln399Profs11) variant in\n                    <jats:italic>TRIM8<\/jats:italic>\n                    , supporting a diagnosis of neuro\u2010renal syndrome. This is the first reported case to suggest a possible association between a\n                    <jats:italic>TRIM8<\/jats:italic>\n                    mutation and the development of MSK. The patient's case expands the known renal phenotype associated with\n                    <jats:italic>TRIM8<\/jats:italic>\n                    \u2010related disorders, highlighting that\n                    <jats:italic>TRIM8<\/jats:italic>\n                    dysfunction may contribute to tubular abnormalities leading to a spongy medullary phenotype. Further studies are needed to investigate the role of\n                    <jats:italic>TRIM8<\/jats:italic>\n                    and related signalling pathways in congenital tubular anomalies and their place in the genetic aetiology of MSK.\n                  <\/jats:p>","DOI":"10.1111\/nep.70147","type":"journal-article","created":{"date-parts":[[2025,11,12]],"date-time":"2025-11-12T03:06:23Z","timestamp":1762916783000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A\n                    <i>TRIM8<\/i>\n                    Variant in a Child: Neuro\u2010Renal Syndrome Causing Features Suggestive of Medullary Sponge Kidney"],"prefix":"10.1111","volume":"30","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0504-7911","authenticated-orcid":false,"given":"Emre","family":"Levento\u011flu","sequence":"first","affiliation":[{"name":"Department of Pediatric Nephrology Konya City Hospital  Konya Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hayriye Nermin","family":"Ke\u00e7eci","sequence":"additional","affiliation":[{"name":"Department of Pediatric Genetic Konya City Hospital  Konya Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2735-6739","authenticated-orcid":false,"given":"Hatice Ko\u00e7ak","family":"Eker","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Konya City Hospital  Konya Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zeynep","family":"Keskin","sequence":"additional","affiliation":[{"name":"Department of Radiology Konya City Hospital  Konya Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Halil","family":"\u00c7elik","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology Konya City Hospital  Konya Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,11,11]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11255\u2010025\u201004531\u20100"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2021.01.008"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2022.918373"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1177\/01617346231165493"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1155\/2022\/7688947"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.40357"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13052\u2010023\u201001453\u20104"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12882\u2010021\u201002626\u20101"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2020.103972"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00467\u2010020\u201004525\u20103"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1177\/2050313X241305905"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms25084486"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2024.1410187"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.3760\/cma.j.cn511374\u201020220831\u201000592"}],"container-title":["Nephrology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/nep.70147","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,11,28]],"date-time":"2025-11-28T00:35:45Z","timestamp":1764290145000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/nep.70147"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,11]]},"references-count":15,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2025,11]]}},"alternative-id":["10.1111\/nep.70147"],"URL":"https:\/\/doi.org\/10.1111\/nep.70147","archive":["Portico"],"relation":{},"ISSN":["1320-5358","1440-1797"],"issn-type":[{"type":"print","value":"1320-5358"},{"type":"electronic","value":"1440-1797"}],"subject":[],"published":{"date-parts":[[2025,11]]},"assertion":[{"value":"2025-07-04","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-10-30","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-11-11","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e70147"}}