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

Research output: Contribution to journalArticle


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.


  • Marcin Zaniew
  • Arend Bökenkamp
  • Marcin Kołbuc
  • Claudio La Scola
  • Federico Baronio
  • Anna Niemirska
  • Maria Szczepańska
  • Julia Bürger
  • Angela La Manna
  • Monika Miklaszewska
  • Anna Rogowska-Kalisz
  • Jutta Gellermann
  • Argyroula Zampetoglou
  • Anna Wasilewska
  • Magdalena Roszak
  • Jerzy Moczko
  • Aleksandra Krzemień
  • Dariusz Runowski
  • Grzegorz Siteń
  • Iga Załuska-Leśniewska
  • And 22 others
  • Patrizia Fonduli
  • Franca Zurrida
  • Fabio Paglialonga
  • Zoran Gucev
  • Dusan Paripovic
  • Rina Rus
  • Valerie Said-Conti
  • Lisa Sartz
  • Woo Yeong Chung
  • Se Jin Park
  • Jung Won Lee
  • Yong Hoon Park
  • Yo Han Ahn
  • Przemysław Sikora
  • Constantinos J. Stefanidis
  • Velibor Tasic
  • Martin Konrad
  • Franca Anglani
  • Maria Addis
  • Hae Il Cheong
  • Michael Ludwig
  • Detlef Bockenhauer
External organisations
  • Child and Mother Specialist Hospital in Poznan
  • Polish Registry of Inherited Tubulopathies (POLtube)
  • Amsterdam UMC - Vrije Universiteit Amsterdam
  • St. Orsola-Malpighi University Hospital
  • Children’s Memorial Health Institute
  • Medical University of Silesia
  • University Hospital Münster
  • University of Naples Federico II
  • Jagellonian University
  • Polish Mother's Memorial Hospital
  • Charité - University Medicine Berlin
  • 'A. and P. Kyriakou' Children's Hospital
  • Medical University of Bialystok
  • Poznan University of Medical Sciences
  • Provincial Hospital, Rzeszow
  • Medical University of Gdansk
  • Azienda Ospedaliera Brotzu
  • Maggiore Hospital Policlinico
  • Phi University Children's Hospital - Skopje
  • University Children's Hospital, Ljubljana
  • Mater Dei Hospital
  • Skåne University Hospital
  • Inje University Paik Hospital
  • Ajou University
  • Ewha Womans University Mokdong Hospital
  • Yeungnam University College of Medicine
  • Hallym University
  • Medical University of Lublin
  • University of Padova
  • University of Cagliari
  • Seoul National University Hospital
  • University of Bonn
  • University College London
Research areas and keywords

Subject classification (UKÄ) – MANDATORY

  • Pediatrics


  • Chronic kidney disease, Dent-2 disease, Lowe syndrome, Nephrocalcinosis, OCRL
Original languageEnglish
Pages (from-to)85-94
Number of pages10
JournalNephrology Dialysis Transplantation
Issue number1
Publication statusPublished - 2018 Jan 1
Publication categoryResearch