Long-term renal outcome in children with OCRL mutations : Retrospective analysis of a large international cohort

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Long-term renal outcome in children with OCRL mutations : Retrospective analysis of a large international cohort

Zaniew, Marcin (author): Child and Mother Specialist Hospital in Poznan,Polish Registry of Inherited Tubulopathies (POLtube)

Bökenkamp, Arend (author): Amsterdam UMC - Vrije Universiteit Amsterdam

Kołbuc, Marcin (author): Child and Mother Specialist Hospital in Poznan

La Scola, Claudio (author): University of Bologna

Baronio, Federico (author): University of Bologna

Niemirska, Anna (author): Children’s Memorial Health Institute

Szczepańska, Maria (author): Medical University of Silesia

Bürger, Julia (author): University Hospital Münster

La Manna, Angela (author): University of Naples Federico II

Miklaszewska, Monika (author): Jagiellonian University

Rogowska-Kalisz, Anna (author): Polish Mother's Memorial Hospital

Gellermann, Jutta (author): Charité - University Medicine Berlin

Zampetoglou, Argyroula (author): 'A. and P. Kyriakou' Children's Hospital

Wasilewska, Anna (author): Medical University of Bialystok

Roszak, Magdalena (author): Poznan University of Medical Sciences

Moczko, Jerzy (author): Poznan University of Medical Sciences

Krzemień, Aleksandra (author): Child and Mother Specialist Hospital in Poznan

Runowski, Dariusz (author): Children’s Memorial Health Institute

Siteń, Grzegorz (author): Provincial Hospital, Rzeszow

Załuska-Leśniewska, Iga (author): Medical University of Gdansk

Fonduli, Patrizia (author): Azienda Ospedaliera Brotzu

Zurrida, Franca (author): Azienda Ospedaliera Brotzu

Paglialonga, Fabio (author): Maggiore Hospital Policlinico

Gucev, Zoran (author): Phi University Children's Hospital - Skopje

Paripovic, Dusan (author): Phi University Children's Hospital - Skopje

Rus, Rina (author): University Children's Hospital, Ljubljana

Said-Conti, Valerie (author): Mater Dei Hospital

Sartz, Lisa (author): 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

Chung, Woo Yeong (author): Inje University Paik Hospital

Park, Se Jin (author): Ajou University

Lee, Jung Won (author): Ewha Womans University Mokdong Hospital

Park, Yong Hoon (author): Yeungnam University College of Medicine

Ahn, Yo Han (author): Hallym University

Sikora, Przemysław (author): Polish Registry of Inherited Tubulopathies (POLtube),Medical University of Lublin

Stefanidis, Constantinos J. (author): 'A. and P. Kyriakou' Children's Hospital

Tasic, Velibor (author): Phi University Children's Hospital - Skopje

Konrad, Martin (author): University Hospital Münster

Anglani, Franca (author): University of Padova

Addis, Maria (author): University of Cagliari

Cheong, Hae Il (author): Seoul National University Hospital

Ludwig, Michael (author): University of Bonn

Bockenhauer, Detlef (author): University College London

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(creator_code:org_t)

2016-10-05
2018
English 10 s.
In: Nephrology Dialysis Transplantation. - : Oxford University Press (OUP). - 0931-0509 .- 1460-2385. ; 33:1, s. 85-94

Related links:: http://dx.doi.org/10...; show more...; https://academic.oup...; https://lup.lub.lu.s...; https://doi.org/10.1...; show less...

Journal article (peer-reviewed)

Abstract Subject headings

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.

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By the author/editor: Zaniew, Marcin; Bökenkamp, Arend; Kołbuc, Marcin; La Scola, Claudi ...; Baronio, Federic ...; Niemirska, Anna; show more...; Szczepańska, Mar ...; Bürger, Julia; La Manna, Angela; Miklaszewska, Mo ...; Rogowska-Kalisz, ...; Gellermann, Jutt ...; Zampetoglou, Arg ...; Wasilewska, Anna; Roszak, Magdalen ...; Moczko, Jerzy; Krzemień, Aleksa ...; Runowski, Darius ...; Siteń, Grzegorz; Załuska-Leśniews ...; Fonduli, Patrizi ...; Zurrida, Franca; Paglialonga, Fab ...; Gucev, Zoran; Paripovic, Dusan; Rus, Rina; Said-Conti, Vale ...; Sartz, Lisa; Chung, Woo Yeong; Park, Se Jin; Lee, Jung Won; Park, Yong Hoon; Ahn, Yo Han; Sikora, Przemysł ...; Stefanidis, Cons ...; Tasic, Velibor; Konrad, Martin; Anglani, Franca; Addis, Maria; Cheong, Hae Il; Ludwig, Michael; Bockenhauer, Det ...; show less...

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MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Clinical Medicin ...; and Pediatrics

Articles in the publication: Nephrology Dialy ...

By the university: Lund University

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Long-term renal outcome in children with OCRL mutations : Retrospective analysis of a large international cohort

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