Dent disease was first described by Dent, C. E. Friedman in 1964 as a very rare X-linked disorder of genetic origin that affects only the kidney, producing loss of various substances such as proteins, calcium, phosphorus and glucose. It may even damage the kidney leading to kidney failure.
Usually, rather than one disease this describes a group of familiar disorders. The cause is genetic alteration or loss-of-function mutations. This disorder is due to genetic mutations in the chloride channel gene, in genes CLCN5 (Dent 1) or OCRL1 (Dent 2). X-linked recessive inheritance. Because of its low incidence it is generally diagnosed as Idiopathic hypercalciuria (excessive urinary calcium excretion of unknown cause). Signs and symptoms: extreme thirst with dehydration, polyuria (excessive production of urine), nephrolithiasis (kidney stones), glycosuria (excretion of glucose into the urine) and hypercalciuria (excessive urinary calcium excretion). It can be associated with: Aminoaciduria, phosphaturia, glycosuria, kaliuresis (potassium in the urine), hyperuricosuria (excessive amounts of uric acid in the urine), inability to acidify, and rickets (bone deformity).