Rare diseases contact Registry
The most common symptoms that patients with Dent's disease experience are related to the passage of kidney stones, such as pain or blood in the urine. Some patients can have foamy urine (a manifestation of proteinuria) and increased thirst. If patients develop renal failure, they can have signs and symptoms related to loss of kidney function that include anemia, fatigue, loss of appetite and weight. If patients develop osteomalacia (weak bones) they might experience boney pain.
A physician may suspect Dent Disease by observing a number of clinical markers including but not limited to
Protein in the urine
Kidney calcifications (nephrocalcinosis)
Calcium oxalate and/or calcium phosphate kidney stones
Excessive levels of calcium in the urine
Reduced levels of parathyroid hormone in the blood
Increased levels of vitamin D
Bone deformities (Rickets)
Short stature/growth delay
A definitive diagnosis can be made by genetic blood testing of the patient. If the patient's genetic material includes Dent Disease-specific mutations, the diagnosis is confirmed.
As part of our research protocol, we now perform CLCN5 and OCRL genetic testing for patients and family members at risk of having the disease or being carriers.
Treatment efforts are targeted to reducing kidney scarring and preventing kidney failure associated with Dent Disease. Unfortunately, the mechanisms by which these outcomes occur are poorly understood, and no treatment trials are available to help physicians choose the best therapy. Available recommendations come from those doctors with the most experience caring for these patients. Since we assume that kidney calcification and kidney stones are caused by the high levels of calcium in the urine, treatment typically is targeted at reducing those levels. This is commonly achieved by administering a thiazide diuretic to increase renal calcium reabsorption and thereby reduce levels of calcium in the final urine. While these drugs have been shown to reduce levels of calcium in the urine of Dent disease patients, no information is available whether or not this can reduce the number of stones or protect kidney function.
Studies in an animal model have suggested that a high citrate diet may delay the loss of kidney function. However there is no data on the use of citrate-containing medications in human patients with Dent disease.
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Should I contact mystery-diagnosis about my rare disease?
I have a rare disease called coccidiomycosis. It's a fungal infection that spores in the soil of southwestern US and central America. The reason I would like to educate people about it is because it is very sneaky, often misdiagnosed as lung cancer or TB in early stages, but equally as fatal in most cases. Good idea???
Go for it. I went through the list of conditions covered in previous episodes of Mystery Diagnosis and do not see it listed:
It is discussed at the Discovery Health web site:
Do you have a story to tell? Did you, a family member or a friend or even someones dog contract Coccidiomycosis? That would make the concept a reality. They are not looking for ideas to discuss, they have those, they want a medical history. Perhaps someone you knew who visited the area but returned home where it is not common. Something that is TRUE and will make an interesting episode.