Most recently in Joubert syndrome, which is a syndromic NPH characterised by ciliary defects leading to cerebellar hypoplasia and nephronophthisis in approximately 1⁄4, reduced first morning UOsm with a poor response to desmopressin (a synthetic V2R agonist) has been shown to be associated with CKD progression [59]. Here, AVPR2 is linked to chronic kidney disease.