Nephrogenic diabetes insipidus

Nephrogenic diabetes insipidus can be cuased by a mutation of Aquaporin 2 (AQ2). The mutations are K228E, V24A and R187C. These mutations could cause structural defects in the water channel affecting their permeablitity and functionality. These defects can cause the renal collecting duct not to respond to ADH and this releases excessive amounts of water in the urine. The urine should be concentrated, as ADH makes the urine more concentrated to maintain the water in your body therefore AQ2 will not reabsorb water from the kidney, resulting in abnormal water loss.