Dent's disease

Dent's Disease

Dent's disease (pronounced: /dɛnts diːz/), is a rare, chronic kidney disease that primarily affects males. It is named after the British physician, Dr. John Charles Dent, who first described the condition in 1964.

Etymology

The term "Dent's disease" is derived from the name of the physician who first identified the condition. The word "disease" comes from the Old French desaise, meaning lack of ease, discomfort, or illness.

Definition

Dent's disease is a genetic disorder characterized by the malfunction of the proximal tubules, the part of the kidney that reabsorbs essential substances into the bloodstream. This malfunction leads to the excessive loss of substances such as calcium, phosphate, and amino acids in the urine, a condition known as low-molecular-weight proteinuria.

Symptoms

Symptoms of Dent's disease may include kidney stones, nephrocalcinosis (a condition where calcium deposits form in the kidneys), renal failure, and rickets (a bone disorder caused by a deficiency of vitamin D, calcium, or phosphate).

Causes

Dent's disease is caused by mutations in the CLCN5 or OCRL genes. These genes provide instructions for making proteins that are involved in the reabsorption of substances in the kidneys. Mutations in these genes disrupt this process, leading to the symptoms of Dent's disease.

Diagnosis

Diagnosis of Dent's disease is based on the presence of certain clinical features, such as low-molecular-weight proteinuria, hypercalciuria, and progressive renal failure. Genetic testing can confirm the diagnosis.

Treatment

There is currently no cure for Dent's disease. Treatment is aimed at managing the symptoms and preventing complications. This may include medication to reduce the levels of calcium in the urine and prevent kidney stones, and vitamin D supplements to prevent rickets.

Related Terms

• Chronic kidney disease
• Genetic disorder
• Proximal tubule
• Low-molecular-weight proteinuria
• Kidney stones
• Nephrocalcinosis
• Renal failure
• Rickets
• CLCN5
• OCRL

External links

• Medical encyclopedia article on Dent's disease
• Wikipedia's article - Dent's disease

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