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Rare kidney conditions

Dent disease: symptoms, causes and management

Dent disease is a very rare inherited kidney condition that mainly affects males. The kidney tubules lose protein and too much calcium passes into the urine, which can lead to kidney stones, calcium deposits in the kidneys and, in some people, rickets or declining kidney function. This guide explains how it is found, what causes it and how it is managed.

Last checked: 2026-10-10

Key facts

At a glance.

  • Very rare

    Kidney Care UK describes it as a very rare kidney condition and says only around 300 cases have been identified worldwide.

  • Mostly males

    The UK Kidney Association explains that both genes involved are on the X chromosome, so boys and men are affected, while females who carry the gene are extremely unlikely to develop the condition.

  • Protein and calcium in urine

    Both UK sources say the kidney fails to recover proteins and calcium properly, leaving too much of each in the urine.

  • Very variable

    Some people have few, mild symptoms and keep normal kidney function throughout life; others are more severely affected.

  • Kidney failure is possible

    Kidney Care UK says around half of people with Dent disease develop kidney failure by the age of 50, and that it is very rare in childhood.

  • No cure, but symptoms can be reduced

    The UK Kidney Association says there is no treatment that corrects the underlying process, but treatment reduces symptoms and improves quality of life.

What Dent disease is

The kidneys filter blood and then reclaim most of the fluid and useful substances in microscopic tubules, leaving a small amount of waste as urine. The UK Kidney Association explains that in Dent disease the tubular system that recovers small proteins is defective, and the same system plays a part in recovering calcium, so more calcium than normal is left in the urine.

Over time, calcium salts build up in the tubules, an effect both the UK Kidney Association and Kidney Care UK compare to hard water furring up a kettle. The deposits can form kidney stones, and calcium deposited in the kidney tissue (nephrocalcinosis) can cause local damage in a process resembling scarring.

Symptoms and how it comes to light

Symptoms tend to develop gradually in childhood or early adulthood, and the disease is very variable. In some people it is found by chance, when a routine urine test finds protein or an ultrasound scan shows calcium deposits in the kidneys. Others present with kidney stones.

  • Kidney stones and renal colic: pain in the back or sides, moving into the groin, coming in waves.

  • Blood in the urine, which may be visible only under a microscope or on a dipstick.

  • Increased thirst and passing more urine.

  • Rickets (softening of the bones), sometimes mild and found only on X-ray, but in young boys potentially painful and delaying walking.

  • In a small number of people, especially with Dent disease type 2, mild learning difficulties and reduced growth.

When to seek help

Severe pain in the back or side, especially if it comes with a fever, vomiting or being unable to pass urine, needs prompt medical assessment through NHS 111, an urgent GP appointment or A&E. In general, a child who is slow to walk, cries when picked up or avoids using a limb should be seen by a GP, because rickets is one of the features described by the UK sources. Blood in urine should always be reported to a GP.

How Dent disease is diagnosed

Kidney Care UK says it is usually diagnosed when a urine test finds protein or calcium. An ultrasound scan may show calcium deposits or stones, and examining any stone passed can support the diagnosis, although it is not always needed. Genetic testing can confirm it.

The UK Kidney Association adds that in a young person kidney stones are rare, so it is important to find out what a stone is made of. The features that go with Dent disease are distinctive: too much calcium in the urine together with an excess of certain proteins, a pattern that can be identified by a laboratory urine test.

Genetics and family history

Dent disease is caused by changes in one of two genes, CLCN5 (Dent disease type 1) or OCRL (type 2). Because both are on the X chromosome, males have no spare copy. A mother who carries the altered gene has a 1 in 2 chance of passing it on with each pregnancy; an affected father cannot pass it to his sons but will pass it to all his daughters, who will be carriers. Kidney Care UK adds that in some cases the change occurs spontaneously.

Genetic counselling through an NHS clinical genetics service can help relatives understand their own situation.

Treatment and long-term outlook

Management aims to reduce symptoms. Both UK sources describe vitamin D to prevent or treat rickets, with Kidney Care UK noting the dose needs careful monitoring to avoid extra calcium loss in the urine. Other substances lost in the urine, such as phosphate, bicarbonate or citrate, may need to be supplemented. A thiazide diuretic may be prescribed to reduce calcium loss.

Small stones that do not block or cause pain may pass naturally and be monitored with ultrasound; larger stones may need lithotripsy, endoscopic removal or, rarely, open surgery. The UK Kidney Association says stones are best managed by a multidisciplinary team including radiology, urology and nephrology.

Some people maintain normal kidney function for life; for others, function declines and dialysis or a kidney transplant may eventually be needed. Because Dent disease is rare, most care is delivered through renal services, with rare disease groups linked to the national RaDaR registry. Kidney Care UK says it is not aware of any UK-based patient support groups specifically for Dent disease.

Frequently asked

Questions people ask.

Quick, plain-English answers to the questions we hear most.

  • What is Dent disease?

    A very rare inherited kidney condition in which too much protein and calcium is lost in the urine, which can lead to kidney stones, calcium deposits and sometimes kidney failure.

  • Who gets Dent disease?

    Almost exclusively males. Kidney Care UK says a very small number of cases have been diagnosed in women, and the UK Kidney Association says females who carry the gene are extremely unlikely to develop the condition.

  • What causes it?

    Changes in the CLCN5 gene (type 1) or the OCRL gene (type 2), both on the X chromosome.

  • How is it diagnosed?

    Usually through urine tests showing protein or calcium, an ultrasound showing calcium deposits or stones, and genetic testing to confirm.

  • Can it affect the bones?

    Yes. Both UK sources say it can cause rickets, which may be mild or in young children painful enough to delay walking.

  • Is there a cure?

    There is no treatment that corrects the underlying disease, but treatment reduces symptoms. This can include vitamin D, a thiazide diuretic and stone management.

  • Will I need dialysis?

    Some will. Kidney Care UK says around half of people with Dent disease develop kidney failure by the age of 50; others keep normal function. It is very rare in childhood.

  • Does it run in families?

    It can. A carrier mother has a 1 in 2 chance of passing the gene to each child, and sometimes the gene change arises spontaneously.

  • Do small kidney stones always need treatment?

    Kidney Care UK says small stones that are not blocking or painful may pass naturally and just need monitoring with ultrasound.

Where this comes from

Sources and checking.

This guide is for information, not medical advice.

Your GP or consultant knows your history and can tell you which parts apply to you. If your symptoms are severe, rapidly worsening, or come with red-flag features, seek urgent medical care. Figures and availability change, so treat them as a guide and confirm with the provider.

Published 2026-10-10, next review 2027-10-10.

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