{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T06:21:18Z","timestamp":1792131678948,"version":"4.4.0"},"reference-count":26,"publisher":"Oxford University Press (OUP)","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2018,1,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Lowe syndrome (LS) and Dent-2 disease (DD2) are disorders associated with mutations in the OCRL gene and characterized by progressive chronic kidney disease (CKD). Here, we aimed to investigate the long-term renal outcome and identify potential determinants of CKD and its progression in children with these tubulopathies.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Retrospective analyses were conducted of clinical and genetic data in a cohort of 106 boys (LS: 88 and DD2: 18). For genotype\u2013phenotype analysis, we grouped mutations according to their type and localization. To investigate progression of CKD we used survival analysis by Kaplan\u2013Meier method using stage 3 CKD as the end-point.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Median estimated glomerular filtration rate (eGFR) was lower in the LS group compared with DD2 (58.8 versus 87.4 mL\/min\/1.73 m2, P &amp;lt; 0.01). CKD stage II\u2013V was found in 82% of patients, of these 58% and 28% had moderate-to-severe CKD in LS and DD2, respectively. Three patients (3%), all with LS, developed stage 5 of CKD. Survival analysis showed that LS was also associated with a faster CKD progression than DD2 (P &amp;lt; 0.01). On multivariate analysis, eGFR was dependent only on age (b = \u22120.46, P &amp;lt; 0.001). Localization, but not type of mutations, tended to correlate with eGFR. There was also no significant association between presence of nephrocalcinosis, hypercalciuria, proteinuria and number of adverse clinical events and CKD.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>CKD is commonly found in children with OCRL mutations. CKD progression was strongly related to the underlying diagnosis but did not associate with clinical parameters, such as nephrocalcinosis or proteinuria.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1093\/ndt\/gfw350","type":"journal-article","created":{"date-parts":[[2016,10,5]],"date-time":"2016-10-05T21:19:05Z","timestamp":1475702345000},"page":"85-94","source":"Crossref","is-referenced-by-count":31,"title":["Long-term renal outcome in children with\n                    <i>OCRL<\/i>\n                    mutations: retrospective analysis of a large international cohort"],"prefix":"10.1093","volume":"33","author":[{"given":"Marcin","family":"Zaniew","sequence":"first","affiliation":[{"name":"Children's Hospital, Poznan, Poland"},{"name":"Polish Registry of Inherited Tubulopathies (POLtube), Polish Society of Pediatric Nephrology, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arend","family":"B\u00f6kenkamp","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, VU Medical Center, Amsterdam, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marcin","family":"Ko\u0142buc","sequence":"additional","affiliation":[{"name":"Children's Hospital, Poznan, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudio","family":"La Scola","sequence":"additional","affiliation":[{"name":"Nephrology and Dialysis Unit, Department of Woman, Child and Urological Diseases, Azienda Ospedaliero-Universitaria \u2018Sant'Orsola-Malpighi\u2019, Bologna, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federico","family":"Baronio","sequence":"additional","affiliation":[{"name":"Endocrinology Unit, Department of Woman, Child and Urological Diseases, Azienda Ospedaliero-Universitaria \u2018Sant'Orsola-Malpighi\u2019, Bologna, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Niemirska","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Kidney Transplantation and Hypertension, The Children's Memorial Health Institute, Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Szczepa\u0144ska","sequence":"additional","affiliation":[{"name":"Chair and Clinical Department of Pediatrics, SMDZ in Zabrze, SUM in Katowice, Katowice, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julia","family":"B\u00fcrger","sequence":"additional","affiliation":[{"name":"Department of General Pediatrics, University Children's Hospital, M\u00fcnster, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela","family":"La Manna","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, II University of Naples, Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monika","family":"Miklaszewska","sequence":"additional","affiliation":[{"name":"Department of Pediatric Nephrology, Collegium Medicum of the Jagiellonian University, Cracow, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Rogowska-Kalisz","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Immunology and Nephrology, Polish Mothers Memorial Hospital Research Institute, \u0141\u00f3d\u017a, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jutta","family":"Gellermann","sequence":"additional","affiliation":[{"name":"Department of Pediatric Nephrology, Charit\u00e9 Universit\u00e4tsmedizin Berlin, Charit\u00e9 Children's Hospital, Berlin, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Argyroula","family":"Zampetoglou","sequence":"additional","affiliation":[{"name":"Pediatric Nephrology, \u2018A. and P. Kyriakou\u2019 Children's Hospital, Athens, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Wasilewska","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Nephrology, Medical University of Bia\u0142ystok, Bia\u0142ystok, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Magdalena","family":"Roszak","sequence":"additional","affiliation":[{"name":"Department of Computer Science and Statistics, Poznan University of Medical Sciences, Poznan, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jerzy","family":"Moczko","sequence":"additional","affiliation":[{"name":"Department of Computer Science and Statistics, Poznan University of Medical Sciences, Poznan, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aleksandra","family":"Krzemie\u0144","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Children's Hospital, Katowice, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dariusz","family":"Runowski","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Kidney Transplantation and Hypertension, The Children's Memorial Health Institute, Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Grzegorz","family":"Site\u0144","sequence":"additional","affiliation":[{"name":"Dialysis Center, District Hospital, Rzesz\u00f3w, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Iga","family":"Za\u0142uska-Le\u015bniewska","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Medical University of Gdansk, Nephrology and Hypertension, Gda\u0144sk, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrizia","family":"Fonduli","sequence":"additional","affiliation":[{"name":"Pediatric Nephrology, Hospital G.Brotzu, Cagliari, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Franca","family":"Zurrida","sequence":"additional","affiliation":[{"name":"Pediatric Nephrology, Hospital G.Brotzu, Cagliari, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabio","family":"Paglialonga","sequence":"additional","affiliation":[{"name":"Pediatric Nephrology and Dialysis Unit, Fondazione IRCCS Ca\u2019 Granda Ospedale Maggiore Policlinico, Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zoran","family":"Gucev","sequence":"additional","affiliation":[{"name":"University Children's Hospital, Medical Faculty Skopje, Skopje, Macedonia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dusan","family":"Paripovic","sequence":"additional","affiliation":[{"name":"Nephrology Department, University Children's Hospital, Belgrade, Serbia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rina","family":"Rus","sequence":"additional","affiliation":[{"name":"Division of Nephrology, University Children's Hospital, Ljubljana, Slovenia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valerie","family":"Said-Conti","sequence":"additional","affiliation":[{"name":"Mater Dei Hospital, Msida, Malta"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa","family":"Sartz","sequence":"additional","affiliation":[{"name":"Department of Pediatric and Adolescent Medicine, Sk\u00e5ne University Hospital, Lund, Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Woo Yeong","family":"Chung","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Inje University Busan Paik Hospital, Busan, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Se Jin","family":"Park","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Ajou University Daewoo Hospital, Geoje, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jung Won","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Ehwa University Mokdong Hospital, Seoul, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yong Hoon","family":"Park","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Yeungnam University College of Medicine, Daegu, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yo Han","family":"Ahn","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Hallym University Kangnam Sacred Heart Hospital, Seoul, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Przemys\u0142aw","family":"Sikora","sequence":"additional","affiliation":[{"name":"Polish Registry of Inherited Tubulopathies (POLtube), Polish Society of Pediatric Nephrology, Poland"},{"name":"Department of Pediatric Nephrology, Medical University of Lublin, Lublin, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Constantinos J","family":"Stefanidis","sequence":"additional","affiliation":[{"name":"Pediatric Nephrology, \u2018A. and P. Kyriakou\u2019 Children's Hospital, Athens, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Velibor","family":"Tasic","sequence":"additional","affiliation":[{"name":"University Children's Hospital, Medical Faculty Skopje, Skopje, Macedonia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"Konrad","sequence":"additional","affiliation":[{"name":"Department of General Pediatrics, University Children's Hospital, M\u00fcnster, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Franca","family":"Anglani","sequence":"additional","affiliation":[{"name":"Laboratory of Histomorphology and Molecular Biology of the Kidney, Department of Medicine, University of Padova, Padova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Addis","sequence":"additional","affiliation":[{"name":"Department of Public Health, Clinical and Molecular Medicine, University of Cagliari, Cagliari, 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