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Disease Profile
Dent disease
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
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Age of onset
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ICD-10
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Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Dent's disease; Dents disease; Dent syndrome;
Summary
Dent disease is a chronic
There are two forms of Dent disease which are distinguished based on their genetic causes. Both forms are
- Dent disease type 1 is caused by a
mutation in the CLCN5gene . - Dent disease type 2 is caused by a mutation in the OCRL gene. Males with this form are also at increased risk for mild
intellectual disability andhypotonia .[1][2]
Treatment is based on the symptoms present, aiming to delay progression of kidney disease and improve quality of life.[2]
Symptoms
- a large amount of
protein in the urine (proteinuria ) - excess calcium in the urine (hypercalciuria)
- calcium deposits in the kidneys (nephrocalcinosis)
- kidney stones which may cause abdominal pain and blood in the urine (hematuria)
Less commonly, people with Dent disease develop rickets, a bone disorder due to low levels of vitamin D and certain minerals in the blood. Rickets can be associated with weakening of the bones, bone pain, bowed legs, and difficulty walking.[1]
Most affected males experience progressive kidney problems that lead to end-stage
Some people with Dent disease have features that affect other
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
80%-99% of people have these symptoms | ||
Aminoaciduria |
High urine amino acid levels
Increased levels of animo acids in urine
[ more ] |
0003355 |
Chronic kidney disease | 0012622 | |
Focal segmental glomerulosclerosis | 0000097 | |
Glycosuria |
Glucose in urine
|
0003076 |
Hematuria |
Blood in urine
|
0000790 |
High serum calcitriol | 0031415 | |
Hypercalciuria |
Elevated urine calcium levels
|
0002150 |
Hyperphosphaturia |
High urine phosphate levels
|
0003109 |
Hyperuricosuria |
High urine uric acid level
|
0003149 |
Low-molecular-weight proteinuria | 0003126 | |
Nephrolithiasis |
Kidney stones
|
0000787 |
Non-acidotic proximal tubulopathy | 0005574 | |
Recurrent fractures |
Increased fracture rate
Increased fractures
Multiple fractures
Multiple spontaneous fractures
Varying degree of multiple fractures
[ more ] |
0002757 |
Renal hypophosphatemia | 0008732 | |
Renal phosphate wasting | 0000117 | |
Renal tubular atrophy | 0000092 | |
Tubulointerstitial fibrosis | 0005576 | |
30%-79% of people have these symptoms | ||
Abdominal pain |
Pain in stomach
Stomach pain
[ more ] |
0002027 |
Bone pain | 0002653 | |
Elevated serum creatine kinase |
Elevated blood creatine phosphokinase
Elevated circulating creatine phosphokinase
Elevated creatine kinase
Elevated serum CPK
Elevated serum creatine phosphokinase
High serum creatine kinase
Increased CPK
Increased creatine kinase
Increased creatine phosphokinase
Increased serum CK
Increased serum creatine kinase
Increased serum creatine phosphokinase
[ more ] |
0003236 |
Nephrocalcinosis |
Too much calcium deposited in kidneys
|
0000121 |
5%-29% of people have these symptoms | ||
Bowing of the legs |
Bowed legs
Bowed lower limbs
[ more ] |
0002979 |
Bulging epiphyses |
Bulging end part of bone
|
0003013 |
Cataract |
Clouding of the lens of the eye
Cloudy lens
[ more ] |
0000518 |
Delayed epiphyseal ossification | 0002663 | |
Enlargement of the ankles | 0003029 | |
Enlargement of the wrists | 0003020 | |
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation
[ more ] |
0001256 | |
Metaphyseal irregularity |
Irregular wide portion of a long bone
|
0003025 |
Mild global |
0011342 | |
Muscular hypotonia |
Low or weak muscle tone
|
0001252 |
Osteomalacia |
Softening of the bones
|
0002749 |
Rickets |
Weak and soft bones
|
0002748 |
Sparse bone trabeculae | 0002752 | |
Thin bony cortex | 0002753 |
Cause
The CLCN5 and OCRL genes give the body instructions to make
Diagnosis
- Low molecular-weight (LMW)
proteinuria at least five times above the upper limit of normal (the pathognomonic finding of Dent disease) no known cases of Dent disease have been missed using thisscreening - Hypercalciuria (excessive calcium in the urine)
- At least one of the following:
- nephrocalcinosis
- kidney stones
- hematuria (blood in the urine)
- hypophosphatemia (low phosphorus in the blood)
- chronic kidney disease
family history consistent withX-linked inheritance
A possible diagnosis of Dent disease is considered if LMW proteinuria and at least one other finding are present.
In 75% of males with the above criteria,
Treatment
Thiazide diuretics in doses greater than 0.4 mg/kg/day have decreased urinary calcium excretion by more than 40% in boys with Dent disease. However, frequent side effects included hypokalemia, volume depletion, and cramping. Careful dosing and close monitoring for these side effects are necessary.
Angiotensin-converting enzyme (ACE) inhibitors and angiotensin receptor blockers (ARBs) have been used in children with
Although a high citrate diet has been used in the treatment of Dent disease (aiming to slow progression of CKD), no human trials have proven its effectiveness.
If males with Dent disease progress to end-stage
Related diseases
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
|
---|
Differential diagnosis includes the other causes of generalized proximal tubule dysfunction (renal Fanconi syndrome; see this term), hereditary, acquired, or caused by exogenous substances.
Visit the Orphanet disease page for more information.
|
Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Organizations Supporting this Disease
-
National Kidney Federation (NKF)
The Point
Shireoaks
Coach Road
Worksop
Notts S81 8BW
United Kingdom
Telephone: 0845 601 02 09
Website: https://www.kidney.org.uk/
Social Networking Websites
- Visit the following Facebook groups related to Dent disease:
Dent Disease Foundation
Dent Disease Mayo Clinic
Organizations Providing General Support
-
American Association of Kidney Patients
3505 E. Frontage Rd., Suite 315
Tampa, FL 33607-1796
Toll-free: 800-749-2257
Telephone: 813-636-8100
Fax: 813-636-8122
E-mail: [email protected]
Website: https://www.aakp.org -
American Kidney Fund (AKF)
11921 Rockville Pike
Suite 300
Rockville, MD 20852
Toll-free: 866-300-2900
E-mail: [email protected]
Website: https://www.kidneyfund.org -
National Kidney Foundation
30 East 33rd Street
New York, NY 10016
Toll-free: 800-622-9010
Telephone: 212-889-2210
Fax: 212-689-9261
E-mail: [email protected]
Website: https://www.kidney.org/ -
The Kidney Foundation of Canada
700-15 Gervais Drive
Toronto Ontario M3C 1Y8
Canada
Toll-free: 800-387-4474
Telephone: 416-445-0373
Fax: 416-445-7440
E-mail: [email protected]
Website: https://www.kidney.on.ca
Learn more
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Where to Start
- Genetics Home Reference (GHR) contains information on Dent disease. This website is maintained by the National Library of Medicine.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- The Renal Association has a website that provides comprehensive information about its rare disease initiative and information for patients about Dent disease.
In-Depth Information
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- Online Mendelian Inheritance in Man (OMIM) lists the subtypes and associated genes for Dent disease in a table called Phenotypic Series. Each entry in OMIM includes a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Dent disease. Click on the link to view a sample search on this topic.
References
- Dent disease. Genetics Home Reference. September, 2012; https://ghr.nlm.nih.gov/condition/dent-disease.
- John C Lieske, Dawn S Milliner, Lada Beara-Lasic, Peter Harris, Katharina Hopp, Andrea Cogal, and Kari Mattison. Dent Disease. GeneReviews. September, 2014; https://www.ncbi.nlm.nih.gov/books/NBK99494/.
- Dent Disease. NORD. 2014; https://rarediseases.org/rare-diseases/dent-disease/.
- Devuyst O, Thakker RV. Dent's disease. Orphanet J Rare Dis. October 14, 2010; 5:28:
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