{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,29]],"date-time":"2026-07-29T18:24:32Z","timestamp":1785349472839,"version":"3.55.0"},"reference-count":23,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2021,1,11]],"date-time":"2021-01-11T00:00:00Z","timestamp":1610323200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2021,1,11]],"date-time":"2021-01-11T00:00:00Z","timestamp":1610323200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Sci Rep"],"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Joubert syndrome (JS) is an inherited ciliopathy characterized by a distinctive cerebellar and brain stem malformation which is known as the \u201cmolar tooth sign\u201d on axial brain images, hypotonia, and developmental delay. Approximately 25\u201330% of patients with JS have kidney disease and many of them progress to end-stage kidney disease (ESKD). However, there are few reports on the outcomes of renal replacement therapy (RRT) in patients with JS and ESKD. In this study, we clarified the clinical features, treatment, and outcomes of patients with JS who underwent RRT. We retrospectively analyzed the medical records and clinical characteristics of 11 patients with JS who underwent RRT between June 1994 and July 2019. Data are shown as the median (range). Gene analysis was performed in 8 of the 11 cases, and <jats:italic>CEP290<\/jats:italic> mutations were found in four patients, two had <jats:italic>TMEM67<\/jats:italic> mutations, one had a <jats:italic>RPGRIP1L<\/jats:italic> mutation, and one patient showed no mutation with the panel exome analysis. Complications in other organs included hydrocephalus in two cases, retinal degeneration in eight cases, coloboma in one case, liver diseases in four cases, and polydactyly in one case. Peritoneal dialysis (PD) was introduced in seven cases, with a median treatment duration of 5.4 (3.4\u201310.7) years. Hemodialysis was performed using arteriovenous fistula in two cases, and kidney transplantation was performed 9 times in eight cases. Only one of the grafts failed during the observation period of 25.6 (8.2\u2013134.2)\u00a0months. The glomerular filtration rate at the final observation was 78.1 (41.4\u2013107.7)\u00a0mL\/min\/1.73\u00a0m<jats:sup>2<\/jats:sup>. The median age at the final observation was 13.4 (5.6\u201325.1)\u00a0years, and all patients were alive except one who died of hepatic failure while on PD. Any type of RRT modality can be a treatment option for patients with JS and ESKD.<\/jats:p>","DOI":"10.1038\/s41598-020-80712-4","type":"journal-article","created":{"date-parts":[[2021,1,11]],"date-time":"2021-01-11T11:49:18Z","timestamp":1610365758000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Any modality of renal replacement therapy can be a treatment option for Joubert syndrome"],"prefix":"10.1038","volume":"11","author":[{"given":"Yoko","family":"Takagi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kenichiro","family":"Miura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomoo","family":"Yabuuchi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naoto","family":"Kaneko","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kiyonobu","family":"Ishizuka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariko","family":"Takei","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chikage","family":"Yajima","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuka","family":"Ikeuchi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasuko","family":"Kobayashi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takumi","family":"Takizawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masataka","family":"Hisano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshinori","family":"Tsurusaki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naomichi","family":"Matsumoto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4309-8672","authenticated-orcid":false,"given":"Motoshi","family":"Hattori","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,1,11]]},"reference":[{"key":"80712_CR1","unstructured":"Melissa, P. & Ian, G. Joubert syndrome\u2014GeneReviews\u00ae\u2014NCBI Bookshelf. https:\/\/www.ncbi.nlm.nih.gov\/sites\/books\/NBK1325\/."},{"key":"80712_CR2","doi-asserted-by":"publisher","first-page":"554","DOI":"10.1177\/088307389901400902","volume":"14","author":"M Joubert","year":"1999","unstructured":"Joubert, M., Eisenring, J. J., Robb, J. P. & Andermann, F. Familial agenesis of the cerebellar vermis: a syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation. J. Child Neurol. 14, 554\u2013564. https:\/\/doi.org\/10.1177\/088307389901400902 (1999).","journal-title":"J. Child Neurol."},{"key":"80712_CR3","doi-asserted-by":"publisher","first-page":"894","DOI":"10.1016\/S1474-4422(13)70136-4","volume":"12","author":"M Romani","year":"2013","unstructured":"Romani, M., Micalizzi, A. & Valente, E. M. Joubert syndrome: congenital cerebellar ataxia with the molar tooth. Lancet Neurol. 12, 894\u2013905. https:\/\/doi.org\/10.1016\/S1474-4422(13)70136-4 (2013).","journal-title":"Lancet Neurol."},{"key":"80712_CR4","doi-asserted-by":"publisher","first-page":"726","DOI":"10.1002\/ajmg.1320430415","volume":"43","author":"JM Saraiva","year":"1992","unstructured":"Saraiva, J. M. & Baraitser, M. Joubert syndrome: a review. Am. J. Med. Genet. 43, 726\u2013731. https:\/\/doi.org\/10.1002\/ajmg.1320430415 (1992).","journal-title":"Am. J. Med. Genet."},{"key":"80712_CR5","doi-asserted-by":"publisher","first-page":"514","DOI":"10.1136\/jmedgenet-2015-103087","volume":"52","author":"R Bachmann-Gagescu","year":"2015","unstructured":"Bachmann-Gagescu, R. et al. Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. J. Med. Genet. 52, 514\u2013522. https:\/\/doi.org\/10.1136\/jmedgenet-2015-103087 (2015).","journal-title":"J. Med. 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