About Dent disease type 2

What is Dent disease type 2?

Dent disease type 2 is a rare inherited disorder that affects the kidneys. It is caused by mutations in the CLCN5 gene, which is responsible for producing a protein that helps regulate the movement of salt and water in and out of cells. Symptoms of Dent disease type 2 include proteinuria (excess protein in the urine), low levels of calcium in the blood, kidney stones, and progressive kidney failure. Treatment typically involves medications to control symptoms and slow the progression of the disease.

What are the symptoms of Dent disease type 2?

The symptoms of Dent disease type 2 include:

-High levels of protein in the urine
-Low levels of phosphate in the blood
-Kidney stones
-Kidney failure
-High blood pressure
-Abnormal growth of the kidneys
-Frequent urination
-Excessive thirst
-Fatigue
-Weight loss
-Nausea
-Vomiting
-Abdominal pain
-Muscle cramps
-Bone pain
-Joint pain
-Itching
-Rashes
-Anemia
-Loss of appetite

What are the causes of Dent disease type 2?

Dent disease type 2 is caused by mutations in the OCRL1 gene. This gene provides instructions for making an enzyme called inositol polyphosphate 5-phosphatase, which is involved in the regulation of certain proteins in the body. Mutations in the OCRL1 gene lead to a decrease in the activity of this enzyme, which can cause the signs and symptoms of Dent disease type 2.

What are the treatments for Dent disease type 2?

The primary treatment for Dent disease type 2 is a low-protein diet and phosphate binders to reduce the amount of phosphate absorbed from food. Other treatments may include medications to reduce the amount of protein in the urine, diuretics to reduce fluid retention, and vitamin D supplements to help the body absorb calcium. In some cases, kidney transplantation may be necessary.

What are the risk factors for Dent disease type 2?

1. Male gender
2. Family history of Dent disease
3. Mutations in the CLCN5 gene
4. High levels of calcium in the urine
5. Low levels of phosphate in the blood
6. High levels of protein in the urine
7. Kidney stones
8. Abnormal kidney function
9. High blood pressure
10. Abnormal levels of electrolytes in the blood

Is there a cure/medications for Dent disease type 2?

Yes, there are medications available to treat Dent disease type 2. These medications are called enzyme replacement therapy (ERT) and they work by replacing the defective enzyme that is missing in Dent disease type 2. ERT is the only available treatment for Dent disease type 2 and it is usually prescribed in combination with other medications to help manage the symptoms of the disease.