Article
Long-term renal outcome in children with OCRL mutations: retrospective analysis of a large international cohort.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association - 1 Jan 2018
Zaniew Marcin, Bökenkamp Arend, Kolbuc Marcin, La Scola Claudio, Baronio Federico, Niemirska Anna, Szczepanska Maria, Bürger Julia, La Manna Angela, Miklaszewska Monika, Rogowska-Kalisz Anna, Gellermann Jutta, Zampetoglou Argyroula, Wasilewska Anna, Roszak Magdalena, Moczko Jerzy, Krzemien Aleksandra, Runowski Dariusz, Siten Grzegorz, Zaluska-Lesniewska Iga, Fonduli Patrizia, Zurrida Franca, Paglialonga Fabio, Gucev Zoran, Paripovic Dusan, Rus Rina, Said-Conti Valerie, Sartz Lisa, Chung Woo Yeong, Park Se Jin, Lee Jung Won, Park Yong Hoon, Ahn Yo Han, Sikora Przemyslaw, Stefanidis Constantinos J, Tasic Velibor, Konrad Martin, Anglani Franca, Addis Maria, Cheong Hae Il, Ludwig Michael, Bockenhauer Detlef
Abstract excerpt
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...
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