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
Original languageEnglish
JournalNephrology Dialysis Transplantation
DOIs
Publication statusPublished - Nov 6 2018

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Chronic Renal Insufficiency
Disease Progression
Osmolar Concentration
Kidney
Urine
Deamino Arginine Vasopressin
Rhombencephalon
Delayed Diagnosis
Mesencephalon
Chronic Kidney Failure
Biomarkers
Joubert syndrome 1

Cite this

@article{1724457b10104ece94acbf6907f29aa0,
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",
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",
year = "2018",
month = "11",
day = "6",
doi = "10.1093/ndt/gfy333",
language = "English",
journal = "Nephrology Dialysis Transplantation",
issn = "0931-0509",
publisher = "Oxford University Press",

}

TY - JOUR

T1 - Impaired urinary concentration ability is a sensitive predictor of renal disease progression in Joubert syndrome

AU - Nuovo, Sara

AU - Fuiano, Laura

AU - Micalizzi, Alessia

AU - Battini, Roberta

AU - Bertini, Enrico

AU - Borgatti, Renato

AU - Caridi, Gianluca

AU - D'Arrigo, Stefano

AU - Fazzi, Elisa

AU - Fischetto, Rita

AU - Ghiggeri, Gian Marco

AU - Giordano, Lucio

AU - Leuzzi, Vincenzo

AU - Romaniello, Romina

AU - Signorini, Sabrina

AU - Stringini, Gilda

AU - Zanni, Ginevra

AU - Romani, Marta

AU - Valente, Enza Maria

AU - Emma, Francesco

PY - 2018/11/6

Y1 - 2018/11/6

N2 - 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

AB - 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

U2 - 10.1093/ndt/gfy333

DO - 10.1093/ndt/gfy333

M3 - Article

JO - Nephrology Dialysis Transplantation

JF - Nephrology Dialysis Transplantation

SN - 0931-0509

ER -