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.
Most affected males experience progressive kidney problems that lead to end-stage
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||
|80%-99% of people have these symptoms|
High urine amino acid levels
Increased levels of animo acids in urine[ more ]
|Chronic kidney disease||0012622|
|Focal segmental glomerulosclerosis||0000097|
Blood in urine
Elevated urine calcium levels
High urine phosphate levels
High urine uric acid level
|Increased serum 1,25-dihydroxyvitamin D3||0003152|
|Non-acidotic proximal tubulopathy||0005574|
Increased fracture rate
Multiple spontaneous fractures
Varying degree of multiple fractures[ more ]
|Renal phosphate wasting||0000117|
|30%-79% of people have these symptoms|
Pain in stomach
Stomach pain[ more ]
|Elevated serum creatine phosphokinase||
Elevated blood creatine phosphokinase
Elevated circulating creatine phosphokinase
Elevated creatine kinase
Elevated serum CPK
Elevated serum creatine kinase
High serum creatine kinase
Increased creatine kinase
Increased creatine phosphokinase
Increased serum CK
Increased serum creatine kinase
Increased serum creatine phosphokinase[ more ]
|5%-29% of people have these symptoms|
|Bowing of the legs||
Bowed lower limbs[ more ]
Bulging end part of bone
Clouding of the lens of the eye
Cloudy lens[ more ]
|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 ]
Irregular wide portion of a long bone
Low or weak muscle tone
Softening of the bones
|Sparse bone trabeculae||0002752|
|Thin bony cortex||0002753|
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.
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
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.
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.
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question
Does Dent disease cause developmental delays? My two year old son was also born extremely ill and was then diagnosed with sepsis. Would there be any connection between the two? I hope you provide me with some answers. See answer