Dent Disease: Causes, Symptoms, and Treatment
Medically reviewed by Sumiran Racherla, MD, Internal Medicine. Last reviewed: October 23, 2026.
What kind of doctor treats Dent Disease?
A nephrologist, a doctor who treats kidney disease, usually treats Dent disease. A geneticist, a doctor who studies inherited conditions, can explain how it runs in families. A direct primary care or concierge doctor can be a first stop for an evaluation and can refer you to a specialist when needed.
What is Dent disease?
Dent disease is a long-term (chronic) kidney disorder that occurs almost exclusively in males. It damages parts of the kidney called proximal tubules. These parts help take water, protein, and other nutrients back into the bloodstream or release them into the urine.
Signs tend to appear in childhood and get worse over time. How severe it is varies greatly from person to person. Researchers describe two forms, Dent disease 1 and Dent disease 2, that are caused by changes in different genes.
Symptoms
Symptoms differ from person to person. Common signs include:
- Small proteins in the urine. This is the most frequent sign, and doctors call it low-molecular-weight proteinuria.
- Too much calcium in the urine, called hypercalciuria. This and the protein loss may be the only signs in affected children.
- Calcium deposits in the kidneys (nephrocalcinosis) and kidney stones (nephrolithiasis).
- Belly pain and blood in the urine (hematuria), which kidney stones can cause.
- Soft, weak bones in some people, called rickets or osteomalacia. These can cause bone pain and make bones more likely to break.
- Rickets can also bring bowed legs, trouble walking, and short stature.
Thirty to 80 percent of people with Dent disease develop kidney failure in early to mid-adulthood. Kidney failure can be life-threatening. It happens when the kidneys can no longer filter fluids and waste well.
Dent disease 2 can also bring mild intellectual disabilities and developmental delays.
Causes and who gets it
Changes in the CLCN5 gene cause Dent disease 1, and changes in the OCRL gene cause Dent disease 2. About 60 percent of people with Dent disease have type 1, and 15 to 20 percent have type 2. In 20 to 25 percent of people, no change in either gene is found, and the cause is not known.
Dent disease is X-linked, which means the genes are on the X chromosome. Males have only one X chromosome, so a change in that one copy of the gene is typically enough to cause the condition. Some females who carry a changed gene have mild features, such as protein in the urine, high calcium in the urine, and kidney stones. Kidney failure in females is extremely rare.
How doctors diagnose it
A 2010 review in a medical journal says doctors base the diagnosis on three findings. The first is a high level of small proteins in the urine. The second is high calcium in the urine. The third is at least one of these: calcium deposits in the kidneys, kidney stones, blood in the urine, low phosphate in the blood, or poor kidney function.
Finding a change in the CLCN5 or OCRL1 gene confirms the diagnosis.
Treatment
Care for Dent disease is supportive, which means it aims to ease problems rather than fix the gene change. The main focus is preventing kidney stones. Doctors may suggest potassium citrate, a salt that helps prevent kidney stones, although how well it works is not certain. Doctors can use water pills called thiazide diuretics to treat high calcium in the urine. These medicines can cause serious side effects, including low body fluid (hypovolemia) and low potassium (hypokalemia). Treating rickets with vitamin D must be done with care, because vitamin D may raise the calcium in the urine. Follow your doctor's instructions about any medicine. If kidney failure happens, a kidney transplant is possible. Dent disease does not come back in a transplanted kidney.
When to see a doctor
See a doctor if you or your child has blood in the urine or belly pain, because kidney stones can cause both. Bone pain, bowed legs, or trouble walking in a child also need a doctor's visit, since they can be signs of rickets. Kidney failure can be life-threatening, so ask your doctor how often you need to see a kidney doctor. Call 911 or go to the emergency room if you have severe belly pain, fainting, or a sudden change in mental state, such as confusion.
How a direct primary care or concierge doctor fits in
A direct primary care doctor charges a flat monthly fee instead of billing insurance, while a concierge doctor usually charges more and often works alongside insurance. A doctor like this can review symptoms and test results, help set up visits with a kidney doctor or a genetic counselor, and help with follow-up care.
Common questions
Is Dent disease inherited?
Yes, Dent disease is inherited in an X-linked pattern. Some cases come from a new gene change, and those people typically have no history of the disorder in their family.
Does Dent disease affect girls and women?
It can, but usually only mildly. Features can include protein in the urine, high calcium in the urine, and kidney stones. Kidney failure in females is extremely rare.
Can Dent disease cause kidney failure?
Yes, it can. Thirty to 80 percent of people with Dent disease develop kidney failure in early to mid-adulthood.
When does Dent disease start?
Signs of Dent disease tend to appear in childhood.
How are Dent disease 1 and Dent disease 2 different?
They are caused by changes in different genes. Dent disease 1 comes from changes in the CLCN5 gene, and Dent disease 2 comes from changes in the OCRL gene.
Sources
- MedlinePlus Genetics - Dent disease
- NIH PubMed Central (Orphanet Journal of Rare Diseases) - Dent's disease
- NIH PubMed Central (Nephrology Dialysis Transplantation) - Dent disease: clinical practice recommendations
Medical Disclaimer
This content is for general educational and informational purposes only and is not medical advice. It is not a substitute for professional medical advice, diagnosis, or treatment, and reading it does not create a doctor-patient relationship. Always seek the advice of your physician or another qualified health provider with any questions about a medical condition, and never disregard or delay seeking professional advice because of something you read here. If you think you may have a medical emergency, call 911 (or your local emergency number) immediately.
