Dent disease is a chronic kidney disorder that occurs almost exclusively in males. The kidney problems seen in affected individuals are a result of damage to structures called proximal tubules. These structures help reabsorb water, protein, and other nutrients into the bloodstream or release them into the urine.

Changes in the CLCN5 gene cause Dent disease 1, while changes in the OCRL gene cause Dent disease 2. Genetic changes that cause disease are called pathogenic variants. Approximately 60 percent of people with Dent disease have type 1. Another 15 to 20 percent of people with Dent disease have type 2.

Approximately 850 families with Dent disease have been reported in the scientific literature. However, because the features of Dent disease can vary and may overlap with those seen in other disorders, this number may not accurately represent the number of people with this condition.

Dent disease is inherited in an X-linked pattern. The CLCN5 and OCRL genes are located on the X chromosome, which is one of the two sex chromosomes in each cell. In males (who have only one X chromosome), a pathogenic variant in the only copy of the gene in each cell is typically sufficient to cause the condition. This is not always the case for X-linked disorders in females (who have two X chromosomes in each cell). However, some females with a pathogenic variant in the CLCN5 or OCRL gene have mild features of Dent disease, including LMW proteinuria, hypercalciuria, and nephrolithiasis. Kidney failure in females is extremely rare. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.

Published Date: April 10, 2026
Published By: National Institutes of Health