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Long-term renal out...
Long-term renal outcome in children with OCRL mutations : Retrospective analysis of a large international cohort
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- Zaniew, Marcin (författare)
- Child and Mother Specialist Hospital in Poznan,Polish Registry of Inherited Tubulopathies (POLtube)
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- Bökenkamp, Arend (författare)
- Amsterdam UMC - Vrije Universiteit Amsterdam
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- Kołbuc, Marcin (författare)
- Child and Mother Specialist Hospital in Poznan
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- La Scola, Claudio (författare)
- University of Bologna
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- Baronio, Federico (författare)
- University of Bologna
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- Niemirska, Anna (författare)
- Children’s Memorial Health Institute
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- Szczepańska, Maria (författare)
- Medical University of Silesia
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- Bürger, Julia (författare)
- University Hospital Münster
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- La Manna, Angela (författare)
- University of Naples Federico II
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- Miklaszewska, Monika (författare)
- Jagiellonian University
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- Rogowska-Kalisz, Anna (författare)
- Polish Mother's Memorial Hospital
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- Gellermann, Jutta (författare)
- Charité - University Medicine Berlin
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- Zampetoglou, Argyroula (författare)
- 'A. and P. Kyriakou' Children's Hospital
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- Wasilewska, Anna (författare)
- Medical University of Bialystok
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- Roszak, Magdalena (författare)
- Poznan University of Medical Sciences
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- Moczko, Jerzy (författare)
- Poznan University of Medical Sciences
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- Krzemień, Aleksandra (författare)
- Child and Mother Specialist Hospital in Poznan
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- Runowski, Dariusz (författare)
- Children’s Memorial Health Institute
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- Siteń, Grzegorz (författare)
- Provincial Hospital, Rzeszow
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- Załuska-Leśniewska, Iga (författare)
- Medical University of Gdansk
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- Fonduli, Patrizia (författare)
- Azienda Ospedaliera Brotzu
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- Zurrida, Franca (författare)
- Azienda Ospedaliera Brotzu
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- Paglialonga, Fabio (författare)
- Maggiore Hospital Policlinico
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- Gucev, Zoran (författare)
- Phi University Children's Hospital - Skopje
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- Paripovic, Dusan (författare)
- Phi University Children's Hospital - Skopje
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- Rus, Rina (författare)
- University Children's Hospital, Ljubljana
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- Said-Conti, Valerie (författare)
- Mater Dei Hospital
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- Sartz, Lisa (författare)
- Lund University,Lunds universitet,Pediatrik, Lund,Sektion V,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Paediatrics (Lund),Section V,Department of Clinical Sciences, Lund,Faculty of Medicine,Skåne University Hospital
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- Chung, Woo Yeong (författare)
- Inje University Paik Hospital
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- Park, Se Jin (författare)
- Ajou University
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- Lee, Jung Won (författare)
- Ewha Womans University Mokdong Hospital
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- Park, Yong Hoon (författare)
- Yeungnam University College of Medicine
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- Ahn, Yo Han (författare)
- Hallym University
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- Sikora, Przemysław (författare)
- Polish Registry of Inherited Tubulopathies (POLtube),Medical University of Lublin
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- Stefanidis, Constantinos J. (författare)
- 'A. and P. Kyriakou' Children's Hospital
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- Tasic, Velibor (författare)
- Phi University Children's Hospital - Skopje
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- Konrad, Martin (författare)
- University Hospital Münster
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- Anglani, Franca (författare)
- University of Padova
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- Addis, Maria (författare)
- University of Cagliari
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- Cheong, Hae Il (författare)
- Seoul National University Hospital
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- Ludwig, Michael (författare)
- University of Bonn
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- Bockenhauer, Detlef (författare)
- University College London
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(creator_code:org_t)
- 2016-10-05
- 2018
- Engelska 10 s.
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Ingår i: Nephrology Dialysis Transplantation. - : Oxford University Press (OUP). - 0931-0509 .- 1460-2385. ; 33:1, s. 85-94
- Relaterad länk:
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http://dx.doi.org/10...
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https://academic.oup...
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https://lup.lub.lu.s...
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https://doi.org/10.1...
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Abstract
Ämnesord
Stäng
- Background. 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. Methods. Retrospective analyses were conducted of clinical and genetic data in a cohort of 106 boys (LS: 88 and DD2: 18). For genotype-phenotype analysis, we grouped mutations according to their type and localization. To investigate progression of CKD we used survival analysis by Kaplan-Meier method using stage 3 CKD as the end-point. Results. 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 < 0.01). CKD stage II-V 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 < 0.01). On multivariate analysis, eGFR was dependent only on age (b0.46, P < 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. Conclusions. 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.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Pediatrik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Pediatrics (hsv//eng)
Nyckelord
- Chronic kidney disease
- Dent-2 disease
- Lowe syndrome
- Nephrocalcinosis
- OCRL
Publikations- och innehållstyp
- art (ämneskategori)
- ref (ämneskategori)
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- Av författaren/redakt...
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Zaniew, Marcin
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Bökenkamp, Arend
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Kołbuc, Marcin
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La Scola, Claudi ...
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Baronio, Federic ...
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Niemirska, Anna
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visa fler...
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Szczepańska, Mar ...
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Bürger, Julia
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La Manna, Angela
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Miklaszewska, Mo ...
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Rogowska-Kalisz, ...
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Gellermann, Jutt ...
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Zampetoglou, Arg ...
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Wasilewska, Anna
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Roszak, Magdalen ...
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Moczko, Jerzy
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Krzemień, Aleksa ...
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Runowski, Darius ...
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Siteń, Grzegorz
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Załuska-Leśniews ...
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Fonduli, Patrizi ...
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Zurrida, Franca
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Paglialonga, Fab ...
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Gucev, Zoran
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Paripovic, Dusan
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Rus, Rina
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Said-Conti, Vale ...
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Sartz, Lisa
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Chung, Woo Yeong
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Park, Se Jin
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Lee, Jung Won
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Park, Yong Hoon
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Ahn, Yo Han
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Sikora, Przemysł ...
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Stefanidis, Cons ...
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Tasic, Velibor
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Konrad, Martin
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Anglani, Franca
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Addis, Maria
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Cheong, Hae Il
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Ludwig, Michael
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Bockenhauer, Det ...
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