Dent disease is a chronic kidney disorder that occurs almost exclusively in males. In affected individuals, kidney problems result from damage to structures called proximal tubules. Signs and symptoms of this condition appear in early childhood and worsen over time.

Dent disease can result from mutations in the CLCN5 or OCRL gene. Mutations in the CLCN5 gene cause Dent disease 1, which accounts for about 60 percent of all cases of Dent disease. Mutations in the OCRL gene cause Dent disease 2, which accounts for about 15 percent of all cases. In the remaining 25 percent of cases, the genetic cause of the disorder is unknown.

Dent disease is a rare condition, with about 250 affected families reported. Dent disease 1 is more common than Dent disease 2.

Dent disease is inherited in an X-linked recessive pattern. The CLCN5 and OCRL genes are located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of a gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.

Published Date: September 01, 2012
Published By: National Institutes of Health