{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,25]],"date-time":"2026-03-25T09:51:40Z","timestamp":1774432300099,"version":"3.50.1"},"reference-count":23,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2020,6,3]],"date-time":"2020-06-03T00:00:00Z","timestamp":1591142400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2020,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>To characterize the phenotypic spectrum and assess the antialbuminuric response to angiotensin converting enzyme (ACE) inhibitor and\/or angiotensin receptor blocker (ARB) therapy in a cohort of children with Dent disease.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>The patients\u2019 clinical findings, renal biopsy results, genetic and follow\u2010up data were analyzed retrospectively. Mutations in <jats:italic>CLCN5<\/jats:italic> or <jats:italic>OCRL<\/jats:italic> were detected by next\u2010generation sequencing or Sanger sequencing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Of 31 Dent disease boys, 24 carried <jats:italic>CLCN5<\/jats:italic> and 7 carried <jats:italic>OCRL<\/jats:italic> mutations. Low molecular weight proteinuria and albuminuria were detected in all cases. Nephrotic\u2010range proteinuria and severe albuminuria were identified in 52% and 62% of cases, respectively; by 7\u00a0years of age, 6 patients had hematuria and nephrotic\u2010range proteinuria, and 7 patients had hematuria and moderate to severe albuminuria. In addition to disease\u2010related renal features, patients with Dent\u20101 disease also presented with congenital cataract (1\/9) and developmental delay (2\/7). Seventeen of 31 patients underwent renal biopsy. Glomerular changes included mild glomerular lesions, mesangial proliferative glomerulonephritis and focal segmental glomerular sclerosis. Thirteen of the 31 patients had follow\u2010up records and received ACE inhibitor and\/or ARB treatment for more than 3\u00a0months. After a median 1.7 (range 0.3\u20138.5) years of treatment, a reduction in the urinary microalbumin\u2010to\u2010creatinine ratio was observed in 54% of children.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Hematuria with nephrotic\u2010range proteinuria or moderate to severe albuminuria was common in Dent disease patients. Extrarenal manifestations were observed in Dent\u20101 patients, which extends the phenotypic spectrum. In addition, ACE inhibitors and ARBs are well tolerated, and they are partially effective in controlling albuminuria.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1306","type":"journal-article","created":{"date-parts":[[2020,6,4]],"date-time":"2020-06-04T05:49:09Z","timestamp":1591249749000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["Phenotypic spectrum and antialbuminuric response to angiotensin converting enzyme inhibitor and angiotensin receptor blocker therapy in pediatric Dent disease"],"prefix":"10.1002","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5227-6733","authenticated-orcid":false,"given":"Haiyue","family":"Deng","sequence":"first","affiliation":[{"name":"Department of Pediatrics Peking University First Hospital Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5599-1559","authenticated-orcid":false,"given":"Yanqin","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Peking University First Hospital Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Huijie","family":"Xiao","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Peking University First Hospital Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yong","family":"Yao","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Peking University First Hospital Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2735-6384","authenticated-orcid":false,"given":"Hongwen","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Peking University First Hospital Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaoyu","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Peking University First Hospital Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Baige","family":"Su","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Peking University First Hospital Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Na","family":"Guan","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Peking University First Hospital Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xuhui","family":"Zhong","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Peking University First Hospital Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Suxia","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Peking University First Hospital Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jie","family":"Ding","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Peking University First Hospital Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fang","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Peking University First Hospital Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,6,3]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.kint.2016.04.022"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.2215\/CJN.00900207"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00467\u2010014\u20102824\u20105"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrneph.2017.83"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750\u20101172\u20105\u201028"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00467\u2010009\u20101299\u20102"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/ped.12944"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/ki.2013.444"},{"key":"e_1_2_8_10_1","volume-title":"GeneReviews((R))","author":"Lieske J. 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