@article{e02118f86763487283c3a6c35dc9fcbd,
title = "Impaired urinary concentration ability is a sensitive predictor of renal disease progression in Joubert syndrome: Nephrology Dialysis Transplantation",
abstract = "Background. Joubert syndrome (JS) is an inherited ciliopathy characterized by a complex midbrain-hindbrain malformation and multiorgan involvement. Renal disease, mainly juvenile nephronophthisis (NPH), was reported in 25-30% patients although only ~18% had a confirmed diagnosis of chronic kidney disease (CKD). NPH often remains asymptomatic for many years, resulting in delayed diagnosis. The aim of the study was to identify a biomarker able to quantify the risk of progressive CKD in young children with JS. Methods. Renal features were investigated in 93 Italian patients, including biochemical tests, ultrasound and 1-deamino-8D-arginine vasopressin test in children with reduced basal urine osmolality. A subset of patients was followed-up over time. Results. At last examination, 27 of 93 subjects (29%) presented with CKD, ranging from isolated urinary concentration defect (UCD) to end-stage renal disease. Both normal and pathological urine osmolality levels remained stable over time, even when obtained at very early ages. Follow-up data showed that the probability of developing CKD can be modelled as a function of the urine osmolality value, exceeding 75% for levels <600 mOsm/kg H2O, and significantly increased in patients with an early diagnosis of isolated UCD. Conclusions. We conclude that the frequency of CKD in JS increases with age and is higher than previously reported. Urine osmolality represents an early sensitive quantitative biomarker of the risk of CKD progression. {\textcopyright} The Author(s) 2018. Published by Oxford University Press on behalf of ERA-EDTA.",
keywords = "1-deamino-8D-arginine vasopressin test, Early diagnosis, Joubert syndrome, Nephronophthisis, Urine osmolality",
author = "S. Nuovo and L. Fuiano and A. Micalizzi and R. Battini and E. Bertini and R. Borgatti and G. Caridi and S. D'Arrigo and E. Fazzi and R. Fischetto and G.M. Ghiggeri and L. Giordano and V. Leuzzi and R. Romaniello and S. Signorini and G. Stringini and G. Zanni and M. Romani and E.M. Valente and F. Emma",
note = "Cited By :2 Export Date: 15 October 2020 CODEN: NDTRE Correspondence Address: Valente, E.M.; Neurogenetics Unit, IRCCS Santa Lucia FoundationItaly; email: enzamaria.valente@unipv.it Funding details: Ministero dell{\textquoteright}Istruzione, dell{\textquoteright}Universit{\`a} e della Ricerca, MIUR Funding details: Fondazione Pierfranco e Luisa Mariani Funding details: Fondazione Telethon, GGP13146 Funding details: Universit{\`a} degli Studi di Pavia, 2018-2022 Funding details: European Research Council, ERC Funding details: European Research Council, ERC, 260888 Funding details: NET-2013-02356160 Funding text 1: This work was funded by the European Research Council (ERC Starting Grant 260888), the Telethon Foundation Italy (Grant GGP13146), the Pierfranco and Luisa Mariani Foundation (PADAPORT project) and the Italian Ministry of Health (Ricerca Finalizzata 2013 NET-2013-02356160, Ricerca Corrente 'Neuroscienze Sperimentali' and 5x1000 Anno 2016 to Fondazione Santa Lucia). The research was also supported by a Grant of the Italian Ministry of Education, University and Research (MIUR) to the Department of Molecular Medicine of the University of Pavia under the initiative 'Dipartimenti di Eccellenza (2018-2022)'. This publication is distributed under the terms of open access policies implemented by the Italian Ministry of Education, University and Research (MIUR). S.N. is the recipient of a PhD bursary financed by AISJAC (Associazione Italiana Sindrome di Joubert e Atassie Congenite). 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year = "2020",
doi = "10.1093/ndt/gfy333",
language = "English",
volume = "35",
pages = "1195--1202",
journal = "Nephrol. Dial. Transplant.",
issn = "0931-0509",
publisher = "Oxford University Press",
number = "7",
}