How rare is Dent disease?

Dent disease is classified as not well established. The estimated prevalence is approximately Unknown. Because rare disease data can be limited, actual numbers may differ from published estimates.

How is Dent disease diagnosed?

Information about diagnosis is currently limited for this condition.

Are there treatments for Dent disease?

Information about treatment is currently limited for this condition.

What complications can arise from Dent disease?

Dent disease can lead to various kidney-related issues due to the dysfunction in the proximal tubule. This may result in problems like kidney stones or low levels of certain minerals in the body. It's important to monitor kidney function regularly to catch any complications early.

How does Dent disease affect daily life?

Living with Dent disease may require regular check-ups to monitor kidney health. Patients might need to manage their diet to ensure they are getting the right nutrients and to avoid complications like kidney stones. Staying hydrated and following a doctor's advice can help in daily management.

What is the life expectancy for someone with Dent disease?

Currently, there is limited information about the life expectancy of individuals with Dent disease. The severity of symptoms can vary greatly, and some people may live normal lives with proper management. Regular medical care can help address any issues that arise.

Should family members be tested for Dent disease?

Since Dent disease is a genetic condition, family members may want to consider genetic testing, especially if there is a known history of the disease. This can help identify if they are carriers of the gene changes associated with Dent disease. Consulting with a genetic counselor can provide more personalized guidance.

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Dent disease - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

Dent disease

MONDO:0015612

Also known as:Dent's diseaseX-linked recessive hypercalciuric hypophosphatemic ricketsX-linked recessive hypophosphatemic rickets

Find Clinical TrialsTrials

Overview

Dent disease is a rare genetic renal tubular disease characterized by manifestations of proximal tubule dysfunction.

OnsetADULT

Clinical Trials5 registered · 4 recruiting

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

No HPO annotations are available for this condition.

Age of onset: adulthood.

GeneReviews

Clinical Guidance

Presentation. In the early stages of Dent disease, children (typically ~10 years) may manifest only low molecular weight (LMW) proteinuria and/or hypercalciuria, both of which are usually asymptomatic . In the asymptomatic individual, detection of proteinuria may occur on a urinalysis done for screening or other purposes. LMW proteinuria and/or hypercalciuria can be accompanied by stone disease or nephrocalcinosis, and less frequently by other manifestations of proximal tubular dysfunction including aminoaciduria, phosphaturia, and glycosuria .

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

Suggestive Findings

Dent disease should be suspected in an individual with the three criteria below in the absence of other known causes of proximal tubule dysfunction . Note: A possible diagnosis of Dent disease is considered if LMW proteinuria and at least one other criterion are present.

Source: GeneReviews — "Dent Disease"

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for Dent disease. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs of an individual diagnosed with Dent disease, the following evaluations are recommended if they have not already been completed:

Assessment of renal function (measured or estimated GFR; urine protein excretion)

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

Renal function measured as glomerular filtration rate (GFR) should be monitored at least annually together with the parameters used to stage chronic kidney disease (i.e., blood pressure, hematocrit/hemoglobin, urinary calcium excretion, and serum calcium and phosphorus concentrations). More frequent visits and monitoring for complications of chronic kidney disease (i.e., hypertension, anemia, and secondary hyperparathyroidism) as well as consideration of intensified treatment of cardiovascular risk factors may be indicated if GFR falls below 45 mL/min/1.73 m2 (CKD Stage 3B).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

5 clinical trials registered, 4 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

NCT ID	Title	Phase	Sponsor	Status
[NCT06065852](https://clinicaltrials.gov/study/NCT06065852)

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 7:47 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:1652

GARD

Genetic and Rare Diseases Info Center

GARD:13105

Questions for Your Care Team

→Are any of the 5 active clinical trials a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

FAQ

Frequently Asked Questions

Common questions about Dent disease

Dent disease is a rare genetic kidney condition that affects the renal tubules, the tiny tubes in the kidneys that help remove waste and extra water from the body. Specifically, it is characterized by problems in the proximal tubule, which is the first segment of the kidney tubule system. This dysfunction can impact the kidney’s ability to reabsorb important substances that the body needs, and may be associated with a range of kidney-related findings. The condition is known by several names, including Dent syndrome and Dent's disease, among others. Although the core issue is a problem in the kidney’s tubules, the exact features and severity may vary among people with the condition. The understanding of Dent disease continues to evolve as research on rare renal tubular disorders progresses.

Information about symptoms is currently limited for this condition.

Dent disease is a genetic disorder, meaning it is caused by changes in a gene that affect the kidney’s proximal tubule function. The condition is inherited, and it is known to follow an X-linked pattern in some of its forms, as suggested by its synonyms. This genetic link indicates that specific mutations disrupt the normal processing in the kidney, leading to the range of issues seen in this disorder. Associated genes include OCRL, CLCN5.

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Research Type	Count	% of Total
Research summaries	11	38%
Patient case studies	8	28%
Laboratory research	7	24%
Testing and diagnosis research	1	3%
Disease patterns and progression	1	3%
New treatment approaches	1	3%

Kisho

Dent disease

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

Differential Diagnosis

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications

Latest News & Developments

Clinical characteristics and genetic analyses of Korean children with Dent disease.

Dent Disease 1 Associated with a Rare Novel Renal Chloride Channel 5 Variant in a Chinese Family.

Dent disease

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

What is Dent disease?

What are the symptoms of Dent disease?

What causes Dent disease?

How rare is Dent disease?

How is Dent disease diagnosed?

Are there treatments for Dent disease?

What complications can arise from Dent disease?

How does Dent disease affect daily life?

What is the life expectancy for someone with Dent disease?

Should family members be tested for Dent disease?

Differential Diagnosis

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications

Latest News & Developments

Clinical characteristics and genetic analyses of Korean children with Dent disease.

Dent Disease 1 Associated with a Rare Novel Renal Chloride Channel 5 Variant in a Chinese Family.