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.
Impaired urinary concentration ability is a sensitive predictor of renal disease progression in Joubert syndrome / Nuovo, Sara; Fuiano, Laura; Micalizzi, Alessia; Battini, Roberta; Bertini, Enrico; Borgatti, Renato; Caridi, Gianluca; D'Arrigo, Stefano; Fazzi, Elisa; Fischetto, Rita; Ghiggeri, Gian Marco; Giordano, Lucio; Leuzzi, Vincenzo; Romaniello, Romina; Signorini, Sabrina; Stringini, Gilda; Zanni, Ginevra; Romani, Marta; Valente, Enza Maria; Emma, Francesco. - In: NEPHROLOGY DIALYSIS TRANSPLANTATION. - ISSN 0931-0509. - (2018). [10.1093/ndt/gfy333]
Impaired urinary concentration ability is a sensitive predictor of renal disease progression in Joubert syndrome
Nuovo, Sara;Leuzzi, Vincenzo;
2018
Abstract
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.| File | Dimensione | Formato | |
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