Marcin Zaniew, Arend Bökenkamp, Marcin Kolbuc, Claudio La Scola, Federico Baronio, Anna Niemirska, Maria Szczepanska, Julia Bürger, Angela La Manna, Monika Miklaszewska, Anna Rogowska-Kalisz, Jutta Gellermann, Argyroula Zampetoglou, Anna Wasilewska, Magdalena Roszak, Jerzy Moczko, Aleksandra Krzemien, Dariusz Runowski, Grzegorz Siten, Iga Zaluska-Lesniewska, 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, Przemyslaw Sikora, Constantinos J Stefanidis, Velibor Tasic, Martin Konrad, Franca Anglani, Maria Addis, Hae Il Cheong, Michael Ludwig, Detlef Bockenhauer
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...
January 1, 2018: Nephrology, Dialysis, Transplantation