{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T13:45:54Z","timestamp":1762004754263},"reference-count":9,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2015,11,10]],"date-time":"2015-11-10T00:00:00Z","timestamp":1447113600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatrics International"],"published-print":{"date-parts":[[2016,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>To date, there have been a very limited number of case reports on combined Alport syndrome (AS) and Klinefelter syndrome (KS). We herein describe the case of a 9\u2010month\u2010old boy diagnosed with concomitant AS and KS. KS was detected on chromosomal analysis of the amniotic fluid, and hematuria\/proteinuria was identified in urinary screening at 6\u2009months of age. Renal biopsy indicated AS, with complete deficit of the \u03b15 chain of type IV collagen in the glomerular basement membranes. On genetic analysis for AS, de novo homozygote mutation (c.3605\u20102a &gt; c) was seen in the gene encoding \u03b15 chain of type IV collagen <jats:italic>(COL4A5)<\/jats:italic> on the X chromosomes of maternal origin. This is the first case report of combined AS and KS diagnosed during infancy, and it indicates the need to consider the concurrent existence of these two disorders in infants with urine abnormalities, even in the absence of a family history.<\/jats:p>","DOI":"10.1111\/ped.12743","type":"journal-article","created":{"date-parts":[[2015,11,11]],"date-time":"2015-11-11T04:01:05Z","timestamp":1447214465000},"page":"152-155","source":"Crossref","is-referenced-by-count":3,"title":["Combined Alport syndrome and Klinefelter syndrome"],"prefix":"10.1111","volume":"58","author":[{"given":"Masashi","family":"Nishida","sequence":"first","affiliation":[{"name":"Department of Pediatric Cardiology and Nephrology Kyoto Prefectural University of Medicine, Graduate School of Medical Science  Kyoto Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fusako","family":"Hashimoto","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Kobe University Graduate School of Medicine  Kobe Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroshi","family":"Kaito","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Kobe University Graduate School of Medicine  Kobe Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kandai","family":"Nozu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Kobe University Graduate School of Medicine  Kobe Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kazumoto","family":"Iijima","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Kobe University Graduate School of Medicine  Kobe Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dai","family":"Asada","sequence":"additional","affiliation":[{"name":"Department of Pediatric Cardiology and Nephrology Kyoto Prefectural University of Medicine, Graduate School of Medical Science  Kyoto Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kenji","family":"Hamaoka","sequence":"additional","affiliation":[{"name":"Department of Pediatric Cardiology and Nephrology Kyoto Prefectural University of Medicine, Graduate School of Medical Science  Kyoto Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2015,11,10]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ki.1993.8"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2012-2382"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201452"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.2164\/jandrol.111.016204"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.2215\/CJN.04140414"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1530\/EJE-14-0213"},{"key":"e_1_2_5_8_1","first-page":"1408","article-title":"De\u2010novo COL4A5 gene mutations in Alport's syndrome","volume":"9","author":"Massella L","year":"1994","journal-title":"Nephrol. Dial. 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