Defects or dysregulation of AQP2 can lead to various disorders. For instance, mutations in the AQP2 gene can result in nephrogenic diabetes insipidus (NDI), a condition characterized by the kidney's inability to concentrate urine. Patients with NDI experience excessive thirst and urination. Additionally, inappropriate regulation of AQP2 can contribute to conditions such as syndrome of inappropriate antidiuretic hormone secretion (SIADH), where excessive water retention occurs.
