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 k...

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Published in:Nephrology, dialysis, transplantation dialysis, transplantation, 2020-07, Vol.35 (7), p.1195-1202
Main Authors: 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
Format: Article
Language:English
Subjects:
Abnormalities, Multiple
Adolescent
Adult
Biomarkers - urine
Cerebellum - abnormalities
Child
Child, Preschool
Disease Progression
Eye Abnormalities - complications
Female
Humans
Infant
Infant, Newborn
Kidney Diseases, Cystic - complications
Male
ORIGINAL ARTICLES
Osmolar Concentration
Renal Insufficiency, Chronic - diagnosis
Renal Insufficiency, Chronic - etiology
Renal Insufficiency, Chronic - urine
Retina - abnormalities
Risk Factors
Survival Rate
Young Adult
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Summary: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
ISSN:0931-0509
1460-2385
1460-2385
DOI:10.1093/ndt/gfy333