Long-term renal outcome in children with OCRL mutations: retrospective analysis of a large international cohort.
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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
Аннотация
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 (b = -0.46, 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.