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

Sara Nuovo, Laura Fuiano, Alessia Micalizzi, Roberta Battini, Enrico Bertini, Renato Borgatti, Gianluca Caridi, Stefano D'Arrigo, Fazzi Elisa, Rita Fischetto, Gian Marco Ghiggeri, Lucio Giordano, Vincenzo Leuzzi, Romina Romaniello, Sabrina Signorini, Gilda Stringini, Ginevra Zanni, Marta Romani, Enza Maria Valente, Francesco Emma

Research output: Contribution to journalArticle

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 only18% 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.
Original languageEnglish
Number of pages8
JournalNephrology, Dialysis and Transplantation
Publication statusE-pub ahead of print - 2018

Keywords

  • 1-deamino-8D-arginine vasopressin test
  • early diagnosis
  • Joubert syndrome
  • nephronophthisis
  • urine osmolality

Fingerprint Dive into the research topics of 'Impaired urinary concentration ability is a sensitive predictor of renal disease progression in Joubert syndrome'. Together they form a unique fingerprint.

  • Cite this

    Nuovo, S., Fuiano, L., Micalizzi, A., Battini, R., Bertini, E., Borgatti, R., Caridi, G., D'Arrigo, S., Elisa, F., Fischetto, R., Ghiggeri, G. M., Giordano, L., Leuzzi, V., Romaniello, R., Signorini, S., Stringini, G., Zanni, G., Romani, M., Valente, E. M., & Emma, F. (2018). Impaired urinary concentration ability is a sensitive predictor of renal disease progression in Joubert syndrome. Nephrology, Dialysis and Transplantation. https://academic.oup.com/ndt/advance-article/doi/10.1093/ndt/gfy333/5162973