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 exami

SUBMITTER: Nuovo S 

PROVIDER: S-EPMC7417010 | biostudies-literature | 2020 Jul

REPOSITORIES: biostudies-literature