Is Dent Disease hereditary?

Dent Disease is a rare genetic disorder that primarily affects the kidneys. It is characterized by the abnormal reabsorption of certain substances in the kidneys, leading to the formation of kidney stones and other related complications.

Now, coming to your question, yes, Dent Disease is hereditary. It is caused by mutations in the CLCN5 or OCRL genes, which are located on the X chromosome. As such, Dent Disease follows an X-linked recessive inheritance pattern.

This means that the condition predominantly affects males, as they have one X and one Y chromosome. Females, on the other hand, have two X chromosomes, which provides a protective effect. However, in rare cases, females can also be affected if they inherit two mutated copies of the gene.

Since Dent Disease is hereditary, it can be passed down from an affected parent to their children. If a father has the condition, he will pass the mutated gene to all of his daughters, who will become carriers. Sons of an affected father have a 50% chance of inheriting the mutated gene and developing Dent Disease themselves.

It is important to note that the severity of Dent Disease can vary among individuals, even within the same family. Some individuals may experience mild symptoms, while others may have more severe complications. Genetic counseling and testing can help determine the risk of inheriting Dent Disease and provide guidance for affected families.