{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,23]],"date-time":"2025-12-23T10:29:12Z","timestamp":1766485752170,"version":"3.41.2"},"reference-count":12,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2021,1,20]],"date-time":"2021-01-20T00:00:00Z","timestamp":1611100800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100007591","name":"Akiyama Life Science Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007591","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["JP15K19595"],"award-info":[{"award-number":["JP15K19595"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["19ek0109301 h0002"],"award-info":[{"award-number":["19ek0109301 h0002"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Transplantation"],"published-print":{"date-parts":[[2021,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>ILNEB constitute an autosomal recessive disorder caused by homozygous or compound heterozygous mutation of the gene for the <jats:italic>ITGA3<\/jats:italic>. To date, 8 ILNEB patients have been reported, but all 6 neonatal\u2010onset ILNEB patients suffered early death within 2\u00a0years. The most common cause of death among previously reported ILNEB patients was exacerbation of the respiratory condition.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>In this study, we describe a case of ILNEB with neonatal onset in a female patient and the genetic and histopathological testing performed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Our patient had a compound heterozygous mutation in <jats:italic>ITGA3<\/jats:italic>. Compared to previously reported patients, this patient exhibited milder clinical and histopathological characteristics. After experiencing a life\u2010threatening respiratory infection at 8\u00a0months old, the patient started periodic subcutaneous immunoglobulin treatment once every 1\u20102\u00a0weeks for nephrotic\u2010range proteinuria\u2010induced secondary hypogammaglobulinemia. At the age of 3\u00a0years, proteinuria gradually increased with severe edema despite strict internal management. Therefore, our patient underwent unilateral nephrectomy and insertion of a peritoneal dialysis catheter followed by another unilateral nephrectomy. One month later, she underwent an ABO\u2010compatible living\u2010donor kidney transplantation at the age of 4\u00a0years.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Our patient is a neonatal\u2010onset ILNEB patient who survived for more than 2\u00a0years and underwent successful kidney transplantation.<\/jats:p><\/jats:sec>","DOI":"10.1111\/petr.13971","type":"journal-article","created":{"date-parts":[[2021,1,20]],"date-time":"2021-01-20T14:39:52Z","timestamp":1611153592000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Successful kidney transplantation in a patient with neonatal\u2010onset ILNEB"],"prefix":"10.1111","volume":"25","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6029-451X","authenticated-orcid":false,"given":"Takayuki","family":"Okamoto","sequence":"first","affiliation":[{"name":"Department of Pediatrics Hokkaido University Graduate School of Medicine Sapporo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6632-7426","authenticated-orcid":false,"given":"Akie","family":"Nakamura","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Hokkaido University Graduate School of Medicine Sapporo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Asako","family":"Hayashi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Hokkaido University Graduate School of Medicine Sapporo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6329-0437","authenticated-orcid":false,"given":"Takeshi","family":"Yamaguchi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Hokkaido University Graduate School of Medicine Sapporo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yayoi","family":"Ogawa","sequence":"additional","affiliation":[{"name":"Hokkaido Renal Pathology Center Sapporo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3865-6366","authenticated-orcid":false,"given":"Ken","family":"Natsuga","sequence":"additional","affiliation":[{"name":"Department of Dermatology Hokkaido University Graduate School of Medicine Sapporo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kumiko","family":"Yanagi","sequence":"additional","affiliation":[{"name":"Department of Genome Medicine National Center for Child Health and Development Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8080-5962","authenticated-orcid":false,"given":"Kiyohiko","family":"Hotta","sequence":"additional","affiliation":[{"name":"Department of Urology Hokkaido University Graduate School of Medicine Sapporo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,1,20]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(02)00971-6"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2013010012"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1152\/ajprenal.2000.279.2.F233"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-011-1890-1"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.122.11.3537"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI58878"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1110813"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI64100"},{"key":"e_1_2_11_10_1","first-page":"3679","article-title":"Crucial role of posttranslational modifications of integrin alpha3 in interstitial lung disease and nephrotic syndrome","volume":"24","author":"Yalcin EG","year":"2015","journal-title":"Hum Mol Genet"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jid.2015.11.031"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-016-0514-z"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"}],"container-title":["Pediatric 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