{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,7,11]],"date-time":"2024-07-11T04:37:46Z","timestamp":1720672666018},"reference-count":9,"publisher":"Wiley","issue":"S1","license":[{"start":{"date-parts":[[2016,6,24]],"date-time":"2016-06-24T00:00:00Z","timestamp":1466726400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Nephrology"],"published-print":{"date-parts":[[2016,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report a case of kidney transplantation from mother to son, both of whom were likely to have had an unrecognized renal variant phenotype of Fabry disease. The patient was a 54\u2010year\u2010old man, with an unknown primary cause of end stage renal disease. He had no notable past medical history, other than end stage renal disease. He underwent living\u2010related kidney transplantation from his mother at age 40\u2009years. Foam cells in the glomeruli were identified on histology assessment of a 0\u2010hour allograft biopsy, with zebra bodies identified in the glomerular visceral epithelial cells by electron microscopy. These findings were indicative of Fabry disease in the donated kidney. As a definitive diagnosis of Fabry's disease could not be confirmed, enzyme replacement therapy was not initiated. Thirteen years after kidney transplantation, the patient underwent left nephrectomy for a left renal tumour, with pathological findings of clear cell carcinoma, foam cells and zebra bodies in the native kidney. Detailed examinations identified low \u03b1\u2010galactosidase A activity and mutation of the <jats:italic>\u03b1\u2010Gal A<\/jats:italic> gene, confirming a diagnosis of a renal variant phenotype of Fabry disease. Histology of several allograft biopsies performed over the 14\u2009years from the time of kidney transplantation revealed only moderate interstitial fibrosis and tubular atrophy, with no evidence of disease progression on electron microscopy, despite the presence of zebra bodies in the glomerular visceral epithelial cells.<\/jats:p>","DOI":"10.1111\/nep.12771","type":"journal-article","created":{"date-parts":[[2016,3,14]],"date-time":"2016-03-14T06:27:08Z","timestamp":1457936828000},"page":"57-59","update-policy":"http:\/\/dx.doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Kidney transplantation from a mother with unrecognized Fabry disease to her son with low \u03b1\u2010galactosidase A activity: A 14\u2010year follow\u2010up without enzyme replacement therapy"],"prefix":"10.1111","volume":"21","author":[{"given":"Keiko","family":"Odani","sequence":"first","affiliation":[{"name":"Department of Urology Tokyo Women's Medical University  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masayoshi","family":"Okumi","sequence":"additional","affiliation":[{"name":"Department of Urology Tokyo Women's Medical University  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kazuho","family":"Honda","sequence":"additional","affiliation":[{"name":"Pathology Tokyo Women's Medical University  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hideki","family":"Ishida","sequence":"additional","affiliation":[{"name":"Department of Urology Tokyo Women's Medical University  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kazunari","family":"Tanabe","sequence":"additional","affiliation":[{"name":"Department of Urology Tokyo Women's Medical University  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2016,6,24]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.7326\/0003-4819-138-4-200302180-00014"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1012423924648"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ki.1978.32"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199508033330504"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1523-1755.2004.00514.x"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-007-0521-2"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.7326\/0003-4819-146-2-200701160-00148"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1755.2003.00160.x"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1097\/TP.0b013e318191a842"}],"container-title":["Nephrology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fnep.12771","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/nep.12771","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,25]],"date-time":"2023-09-25T21:31:33Z","timestamp":1695677493000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/nep.12771"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,6,24]]},"references-count":9,"journal-issue":{"issue":"S1","published-print":{"date-parts":[[2016,7]]}},"alternative-id":["10.1111\/nep.12771"],"URL":"https:\/\/doi.org\/10.1111\/nep.12771","archive":["Portico"],"relation":{},"ISSN":["1320-5358","1440-1797"],"issn-type":[{"value":"1320-5358","type":"print"},{"value":"1440-1797","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,6,24]]},"assertion":[{"value":"2016-03-04","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2016-06-24","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}