{"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":1788746869994,"version":"build-2803163510"},"reference-count":15,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2024,9,18]],"date-time":"2024-09-18T00:00:00Z","timestamp":1726617600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2024,9,18]],"date-time":"2024-09-18T00:00:00Z","timestamp":1726617600000},"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                    Karyomegalic interstitial nephritis (KIN) is a rare entity associated with biallelic\n                    <jats:italic>FAN1<\/jats:italic>\n                    (FANCD2\/FANCI\u2010Associated Nuclease 1) gene variants. In\n                    <jats:italic>FAN1\u2010<\/jats:italic>\n                    related KIN, abnormal liver function tests and respiratory involvement are common, in addition to chronic kidney disease. Karyomegalic changes have also been reported in many other organs in patients with\n                    <jats:italic>FAN1\u2010<\/jats:italic>\n                    related KIN in various studies. We report the case of a 35\u2010year\u2010old male with chronic kidney disease of unknown aetiology, concurrent recurrent upper and lower respiratory tract infections, and elevated liver function test results with unidentified aetiology. The patient's family history was remarkable for consanguineous parent marriage and history of kidney transplantation in his aunt. A kidney biopsy was performed, which was consistent with KIN. Clinical exome sequencing revealed a homozygous nonsense variant NM_014967.5 (FAN1): c. 2260C\u2009&gt;\u2009T (p.Arg754Ter). According to the American College of Medical Genetics (ACMG) criteria, this variant is pathogenic and, to the best of our knowledge, has not been previously reported, homozygously. Therefore, the histopathological and clinical diagnoses of KIN were confirmed by genetic studies in our patient. This case report expands the genetic spectrum of\n                    <jats:italic>FAN1<\/jats:italic>\n                    \u2010related KIN, and briefly reviews the current literature data.\n                  <\/jats:p>","DOI":"10.1111\/nep.14394","type":"journal-article","created":{"date-parts":[[2024,9,18]],"date-time":"2024-09-18T23:09:47Z","timestamp":1726700987000},"page":"968-972","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A rare multisystemic disorder with chronic kidney disease: Karyomegalic interstitial nephritis due to homozygous\n                    <i>FAN1<\/i>\n                    c.\n                    <scp>2260C<\/scp>\n                    &gt;T variant"],"prefix":"10.1111","volume":"29","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6065-4423","authenticated-orcid":false,"given":"Merve","family":"Guzel Dirim","sequence":"first","affiliation":[{"name":"Department of Internal Medicine, Istanbul Faculty of Medicine Istanbul University  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2262-8627","authenticated-orcid":false,"given":"Ahmet Burak","family":"Dirim","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Division of Nephrology, Istanbul Faculty of Medicine Istanbul University  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Berker","family":"Kaya","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Istanbul Faculty of Medicine Istanbul University  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naci","family":"Senkal","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Istanbul Faculty of Medicine Istanbul University  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tugba","family":"Kalayci","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Division of Medical Genetics, Istanbul Faculty of Medicine Istanbul University  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ayca","family":"Aslanger","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Istanbul Faculty of Medicine Istanbul University  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Neslihan","family":"Berker","sequence":"additional","affiliation":[{"name":"Department of Pathology, Istanbul Faculty of Medicine Istanbul University  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Murat","family":"Kose","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Istanbul Faculty of Medicine Istanbul University  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isin","family":"Kilicaslan","sequence":"additional","affiliation":[{"name":"Department of Pathology, Istanbul Faculty of Medicine Istanbul University  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Halil","family":"Yazici","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Division of Nephrology, Istanbul Faculty of Medicine Istanbul University  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,9,18]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.kint.2023.10.036"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2347"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1097\/MD.0000000000003349"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2015101108"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.5414\/CNP65349"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms25115907"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12882-020-01762-4"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1191\/0960327104ht458oa"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/path.1711130303"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.amjms.2020.04.010"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.4103\/0971-4065.127905"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12882-020-01733-9"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/ajt.15035"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12882-023-03185-3"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1159\/000503034"}],"container-title":["Nephrology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/nep.14394","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/nep.14394","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/nep.14394","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,9,7]],"date-time":"2026-09-07T01:28:47Z","timestamp":1788744527000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/nep.14394"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,9,18]]},"references-count":15,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2024,12]]}},"alternative-id":["10.1111\/nep.14394"],"URL":"https:\/\/doi.org\/10.1111\/nep.14394","archive":["Portico"],"relation":{},"ISSN":["1320-5358","1440-1797"],"issn-type":[{"value":"1320-5358","type":"print"},{"value":"1440-1797","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,9,18]]},"assertion":[{"value":"2024-01-11","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication 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