{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,17]],"date-time":"2026-09-17T21:12:45Z","timestamp":1789679565514,"version":"4.0.1"},"reference-count":19,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2017,6,15]],"date-time":"2017-06-15T00:00:00Z","timestamp":1497484800000},"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":[[2017,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:italic>WDR19<\/jats:italic> has been reported as a causative gene of nephronophthisis\u2010related ciliopathies. Patients with <jats:italic>WDR19<\/jats:italic> mutations can show various extrarenal manifestations such as skeletal disorders, Caroli disease, and retinal dystrophy, and typically display nephronophthisis as a renal phenotype. However, there is limited information on the renal phenotypes of patients with <jats:italic>WDR19<\/jats:italic> mutations. We report two Japanese infants with Sensenbrenner syndrome caused by <jats:italic>WDR19<\/jats:italic> mutations who demonstrated different features in renal ultrasound and histopathological results, despite several common extrarenal manifestations. Patient 1 had normal sized and hyperechogenic kidneys with several small cysts and histopathological findings compatible with infantile nephronophthisis. Renal ultrasound of Patient 2 showed enlarged kidneys with diffuse microcysts resembling those of autosomal recessive polycystic kidney disease. Her renal histopathology revealed dysplastic kidney with diffuse glomerular cysts. Genetic testing identified compound heterozygous mutations in <jats:italic>WDR19<\/jats:italic> in both patients (Patient 1: c.953delA, c.3533G\u00a0&gt;\u00a0A, Patient 2: c.2645\u00a0+\u00a01G\u00a0&gt;\u00a0T, c.3533G\u00a0&gt;\u00a0A). Our patients suggest that <jats:italic>WDR19<\/jats:italic> mutations can cause dysplastic kidney in addition to nephronophthisis pathologically. In addition, differences in pathology of the kidneys from <jats:italic>WDR19<\/jats:italic> mutations may result in heterogeneous features in renal ultrasound findings. Renal phenotypes from <jats:italic>WDR19<\/jats:italic> mutations may thus be more diverse than previously reported. Extrarenal manifestations and genetic testing can therefore help to diagnosis this disease more precisely.<\/jats:p>","DOI":"10.1111\/nep.12996","type":"journal-article","created":{"date-parts":[[2017,6,16]],"date-time":"2017-06-16T00:10:17Z","timestamp":1497571817000},"page":"566-571","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["Diversity of renal phenotypes in patients with <i>WDR19<\/i> mutations: Two case reports"],"prefix":"10.1111","volume":"22","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3426-5982","authenticated-orcid":false,"given":"Takahisa","family":"Yoshikawa","sequence":"first","affiliation":[{"name":"Division of Nephrology and Rheumatology National Center for Child Health and Development  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3528-6961","authenticated-orcid":false,"given":"Koichi","family":"Kamei","sequence":"additional","affiliation":[{"name":"Division of Nephrology and Rheumatology National Center for Child Health and Development  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroko","family":"Nagata","sequence":"additional","affiliation":[{"name":"Division of Nephrology and Rheumatology National Center for Child Health and Development  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ken","family":"Saida","sequence":"additional","affiliation":[{"name":"Division of Nephrology and Rheumatology National Center for Child Health and Development  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mai","family":"Sato","sequence":"additional","affiliation":[{"name":"Division of Nephrology and Rheumatology National Center for Child Health and Development  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masao","family":"Ogura","sequence":"additional","affiliation":[{"name":"Division of Nephrology and Rheumatology National Center for Child Health and Development  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shuichi","family":"Ito","sequence":"additional","affiliation":[{"name":"Division of Nephrology and Rheumatology National Center for Child Health and Development  Tokyo Japan"},{"name":"Department of Pediatrics, Graduate School of Medicine Yokohama City University  Yokohama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1793-4892","authenticated-orcid":false,"given":"Osamu","family":"Miyazaki","sequence":"additional","affiliation":[{"name":"Department of Radiology National Center for Child Health and Development  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6431-3239","authenticated-orcid":false,"given":"Maki","family":"Urushihara","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Institute of Biomedical Sciences Tokushima University Graduate School  Tokushima Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shuji","family":"Kondo","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Institute of Biomedical Sciences Tokushima University Graduate School  Tokushima Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7018-3306","authenticated-orcid":false,"given":"Noriko","family":"Sugawara","sequence":"additional","affiliation":[{"name":"Department of Pediatric Nephrology Tokyo Women's Medical University  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1162-6714","authenticated-orcid":false,"given":"Kiyonobu","family":"Ishizuka","sequence":"additional","affiliation":[{"name":"Department of Pediatric Nephrology Tokyo Women's Medical University  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuko","family":"Hamasaki","sequence":"additional","affiliation":[{"name":"Department of Pediatric Nephrology Toho University Faculty of Medicine  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seiichiro","family":"Shishido","sequence":"additional","affiliation":[{"name":"Department of Pediatric Nephrology Toho University Faculty of Medicine  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2936-6615","authenticated-orcid":false,"given":"Naoya","family":"Morisada","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Kobe University Graduate School of Medicine  Kobe Japan"},{"name":"Department of Clinical Genetics Hyogo Prefectural Kobe Children's Hospital  Kobe Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0378-8174","authenticated-orcid":false,"given":"Kazumoto","family":"Iijima","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Kobe University Graduate School of Medicine  Kobe Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michio","family":"Nagata","sequence":"additional","affiliation":[{"name":"Department of Kidney and Vascular Pathology, Faculty of Medicine University of Tsukuba  Ibaraki Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takako","family":"Yoshioka","sequence":"additional","affiliation":[{"name":"Department of Pathology National Center for Child Health and Development  Tokyo 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