Dent Disease 1
OMIM number: 300009
Comments closing date: 17/11/2025
Dent disease is a chronic kidney disorder that occurs almost exclusively in males. There are two
forms of Dent disease (1 and 2). Dent disease 1 results from mutations in the CLCN5 gene. Dent
disease 1 accounts for around 60% of all cases.The proteins produced by the CLCN5 gene play a
critical role in normal kidney function, particularly the function of the proximal tubules which help to
reabsorb nutrients, water, and other materials that have been filtered from the bloodstream. The
kidneys reabsorb needed materials into the blood and excrete everything else into the urine. Studies suggest mutations in the CLCN5 gene disrupt the reabsorption function of the proximal tubules, which leads to progressive kidney problems. Dent disease is inherited in an X-linked recessive pattern. In males (XY), one altered copy of a gene in each cell is sufficient to cause the condition. Because females (XX) have a second copy of the CLCN5 gene, males are affected much more frequently than females. Some females with a mutation in the CLCN5 gene have mild features, including large amounts of protein and excess calcium in the urine. Severe kidney problems, including end-stage renal disease (ESRD), are rare in female carriers.
Review date: 20 October 2027
