Dent disease

Dent disease is a rare, genetic disorder primarily affecting the kidneys. It is characterized by symptoms such as low molecular weight proteinuria, hypercalciuria, calcium nephrolithiasis, nephrocalcinosis, and progressive renal failure. Dent disease is primarily caused by mutations in the CLCN5 gene, which is located on the X chromosome, leading to its classification as an X-linked recessive condition. This means that the disease predominantly affects males, while females can be carriers with a lesser degree of symptom manifestation.

Causes

Dent disease is caused by mutations in two genes: CLCN5 (Dent disease 1) and OCRL (Dent disease 2). The CLCN5 gene encodes for a protein that is involved in the reabsorption of proteins and electrolytes in the kidneys. Mutations in this gene disrupt this process, leading to the symptoms associated with the disease. The OCRL gene, on the other hand, is involved in phosphatidylinositol metabolism, and mutations here can lead to similar renal symptoms.

Symptoms

The primary symptoms of Dent disease include:

• Low molecular weight proteinuria - the presence of small proteins in the urine, which is a key indicator of kidney damage.
• Hypercalciuria - elevated levels of calcium in the urine, which can lead to kidney stones and nephrocalcinosis.
• Nephrocalcinosis - calcification within the kidneys, which can impair their function.
• Progressive renal failure - a gradual loss of kidney function over time.
• Rickets or osteomalacia - in some cases, due to the loss of calcium through the urine.

Diagnosis

Diagnosis of Dent disease is based on the clinical symptoms, especially the presence of low molecular weight proteinuria and hypercalciuria in a male patient. Genetic testing for mutations in the CLCN5 and OCRL genes can confirm the diagnosis. Additionally, a family history of similar symptoms can suggest the X-linked inheritance pattern of the disease.

Treatment

There is no cure for Dent disease, and treatment focuses on managing symptoms and slowing the progression of kidney damage. This may include medication to reduce calcium levels in the urine, treatment for bone disorders such as rickets or osteomalacia, and monitoring and managing kidney function. In advanced cases, dialysis or kidney transplantation may be necessary.

Prognosis

The prognosis for individuals with Dent disease varies. While some may maintain a relatively normal life with careful management, others may experience a gradual decline in kidney function, leading to end-stage renal disease. Early diagnosis and management are crucial in improving the quality of life and slowing the progression of the disease.

Dent disease Resources
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