@article{bf9e3c99fba940d084f25f5df57886ad,
title = "Impaired urinary concentration ability is a sensitive predictor of renal disease progression in Joubert syndrome",
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.",
keywords = "1-deamino-8D-arginine vasopressin test, Early diagnosis, Joubert syndrome, Nephronophthisis, Urine osmolality",
author = "Sara Nuovo and Laura Fuiano and Alessia Micalizzi and Roberta Battini and Enrico Bertini and Renato Borgatti and Gianluca Caridi and Stefano D'Arrigo and Elisa Fazzi and Rita Fischetto and Ghiggeri, {Gian Marco} and Lucio Giordano and Vincenzo Leuzzi and Romina Romaniello and Sabrina Signorini and Gilda Stringini and Ginevra Zanni and Marta Romani and Valente, {Enza Maria} and Francesco Emma",
note = "Funding Information: 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 {\textquoteleft}Neuroscienze Sperimentali{\textquoteright} 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 {\textquoteleft}Dipartimenti di Eccellenza (2018–2022){\textquoteright}. 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). Funding Information: 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). Publisher Copyright: {\textcopyright} The Author(s) 2018. Published by Oxford University Press on behalf of ERA-EDTA. Copyright: Copyright 2020 Elsevier B.V., All rights reserved.",
year = "2020",
month = jul,
doi = "10.1093/ndt/gfy333",
language = "English",
volume = "35",
pages = "1195--1202",
journal = "Nephrology Dialysis Transplantation",
issn = "0931-0509",
publisher = "Oxford University Press",
number = "7",
}