ArticleNephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association2020
Impaired urinary concentration ability is a sensitive predictor of renal disease progression in Joubert syndrome.
Article in Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 22 citations in OpenAlex.
- A Novel Pathogenic Splicing Mutation ofPharmacogenomics and personalized medicine · 2025Article
- Is mild dehydration a risk for progression of childhood chronic kidney disease?Pediatric nephrology (Berlin, Germany) · 2024Review
- Nephronophthisis: a pathological and genetic perspective.Pediatric nephrology (Berlin, Germany) · 2024Review
- A novel mutation of the RPGRIP1L gene in a Chinese boy with Joubert syndrome with oculorenal involvement.BMC pediatrics · 2023Article
- The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued.Orphanet journal of rare diseases · 2023Observational
- Clinical and genetic characteristics of 36 children with Joubert syndrome.Frontiers in pediatrics · 2023Article
- NovelOpen life sciences · 2023Article
- Chronic Lithium Therapy and Urine-Concentrating Ability in Individuals With Bipolar Disorder: Association Between Daily Dose and Resistance to Vasopressin and Polyuria.Kidney international reports · 2022Article
- Genotype-phenotype correlates in Joubert syndrome: A review.American journal of medical genetics. Part C, Seminars in medical genetics · 2022Review
- Age and sex prevalence estimate of Joubert syndrome in Italy.Neurology · 2020Article
- Mouse genetics reveals Barttin as a genetic modifier of Joubert syndrome.Proceedings of the National Academy of Sciences of the United States of America · 2020Article
- Healthcare recommendations for Joubert syndrome.American journal of medical genetics. Part A · 2020Review
- A Case of Joubert Syndrome with Chronic Kidney Disease.Indian journal of nephrologyArticle
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Authors and funding
20 authors at 11 institutions in 1 country.
Funding
Abstract
backgroundJoubert 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.
methodsRenal 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.
resultsAt 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.
conclusionsWe 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.
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