Here at Children’s Hospital of Philadelphia (CHOP), our Pediatric Kidney Stone Center is one of the largest and most experienced programs in the nation, caring for children with complex kidney conditions like Dent disease. Our team includes specialists in nephrology, urology and nutrition who work together to provide expert, family-centered care and guide families through each step of managing this rare condition.

What is Dent disease?

Dent disease is a rare genetic kidney condition that mostly affects boys and young men. It happens when the kidney’s microscopic filters, called tubules, don’t work as they should. This can cause too much protein and calcium to leak into your child’s urine. Over time, this may lead to kidney stones and kidney failure.

Causes of Dent disease

Dent disease is caused by changes in the genes passed down through families, and it mostly affects boys. The most common cause is a change in a gene called CLCN5, which helps make a protein called CIC-5. It can also be caused by another recessive gene, OCRL1. In some cases, changes in this gene may be linked to learning differences or a related condition called Lowe syndrome.

Signs and symptoms of Dent disease

If your child has Dent disease they may:

• Be very thirsty and need to urinate often
• Develop kidney stones over time
• Have worsening kidney function over time
• Also have a condition called rickets, and experience bone pain or slower physical growth 

If Dent disease is left untreated, it can eventually lead to serious kidney disease. The symptoms often look like other kidney problems, making it harder to diagnose. Our kidney specialists aim to find any excess protein or calcium in your child's urine, so we can diagnose and treat potential Dent disease as early as possible.

Testing and diagnosis for Dent disease

Our doctors diagnose Dent disease by testing your child’s urine for certain small proteins and high levels of calcium. We use an ultrasound to look for calcium buildup or stones in your child’s kidneys. And we use genetic testing to confirm your child’s diagnosis.

Treatment for Dent disease

Once we have diagnosed your child with Dent disease, the care we provide focuses on supporting their kidney health and overall growth, and managing their symptoms. By tailoring treatment to each child’s needs, we can help protect their kidney function and improve their overall quality of life over time.

Electrolyte supplementation - We use this method to give your child's body important minerals like bicarbonate, phosphate and potassium (electrolytes). These supplements help keep their bones strong and their muscles and nerves working properly. For children with Dent disease, this can help prevent problems like weak bones, slow growth or bone pain caused by low mineral levels. These supplements are usually taken by mouth and are carefully adjusted by your child’s care team to meet their specific needs.

Regular monitoring and management of kidney function – This means we keep a close eye on how well your child's kidneys are working over time. This may include lab tests to check kidney health, measuring protein and calcium levels in the urine, and using imaging studies (like ultrasounds) to look for early signs of kidney stones or calcium buildup. By monitoring these changes, your care team can adjust your child’s treatments as needed to help slow down any loss of kidney function and prevent complications.

Kidney stone prevention – We focus on lowering the chances kidney stones will develop or return by having your child adopt certain habits, like drinking more fluids and changing their diet. We also help guide your family to the right prevention measures to take at home, based on the severity of their condition. 

Follow-up care for Dent disease

Regular checkups are an important part of caring for your child with Dent disease. During these visits, your care team will check your child’s growth, kidney function and electrolyte levels. We will continue to test for calcium in your child’s urine and screen for early signs of kidney stones. Tracking these changes over time helps our doctors adjust your child’s treatment as needed, support healthy growth and catch any kidney problems before they become more serious.

Outlook for children with Dent disease

With the right treatment and regular follow-up care, most children with Dent disease can grow and develop healthily throughout their childhoods. Some may experience mild symptoms. For those that develop severe kidney disease and require lifelong kidney care, we will continue to provide the support, answers and advanced treatment options your child and your family need.

Research

Our doctors and scientists are always learning more about how to prevent and treat kidney disease. Through ongoing research and discovery, we’re finding new ways to protect kidney health, improve treatments and give every child the best possible care both now and in the future.