{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T01:45:45Z","timestamp":1747187145518,"version":"3.40.5"},"reference-count":21,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2023,3,6]],"date-time":"2023-03-06T00:00:00Z","timestamp":1678060800000},"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":[[2023,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Alport syndrome (AS) is a progressive renal disease characterized by hematuria and progressive renal failure. X\u2010linked dominant (XLAS) is the major inheritance form, accounting for almost 80% of the cases, caused by mutations in <jats:italic>COL4A5<\/jats:italic> genes. Klinefelter syndrome (KS) is the most common genetic cause of human male gonadal dysgenesis. AS and KS are both rare disease, there are only three cases of combined AS and KS in the literatures. Fanconi syndrome (FS) caused by AS is also very rare. We report here the first case combined AS, KS and FS in a Chinese boy. We suggest that the severe renal phenotype and FS might be due to the two homozygous COL4A5 variants in our boy, and cases of AS combined KS will be good research objects for X chromosome inactivation.<\/jats:p>","DOI":"10.1111\/nep.14152","type":"journal-article","created":{"date-parts":[[2023,3,7]],"date-time":"2023-03-07T03:10:57Z","timestamp":1678158657000},"page":"272-275","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Combined <scp>Alport<\/scp> syndrome, <scp>Klinefelter<\/scp> syndrome and <scp>Fanconi<\/scp> syndrome in a <scp>Chinese<\/scp> boy"],"prefix":"10.1111","volume":"28","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2735-6384","authenticated-orcid":false,"given":"Hongwen","family":"Zhang","sequence":"first","affiliation":[{"name":"Department of Pediatrics Peking University First Hospital  Beijing People's Republic of China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fang","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Peking University First Hospital  Beijing People's Republic of China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Huijie","family":"Xiao","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Peking University First Hospital  Beijing People's Republic of China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,3,6]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-022-06525-9"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.2174\/0929867328666210108113500"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1053\/j.ajkd.2021.02.326"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.ASN.0000071513.73427.97"},{"key":"e_1_2_5_6_1","first-page":"S69","article-title":"Alport syndrome","volume":"58","author":"Kashtan CE","year":"1997","journal-title":"Kidney Int Suppl"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.kint.2020.06.038"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.xkme.2020.05.014"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.12688\/f1000research.16747.1"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s40618-016-0541-6"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pcl.2018.09.002"},{"key":"e_1_2_5_12_1","first-page":"303","article-title":"Fanconi syndrome in the adulthood. 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