X-linked AVPR2 mutations (∼90% of the cases)Autosomal recessive or dominant AQP2 gene mutationsPolyhydramnios, megalencephaly and symptomatic epilepsy (PMSE) syndromeInherited renal syndromes (nephropathic cystinosis, Bartter syndrome, nephronophthisis, etc.) This evidence concerns the gene AQP2 and nephropathic infantile cystinosis.