Alport syndrome

Alport Syndrome

Alport Syndrome (pronounced: AL-port sin-drome) is a genetic disorder affecting the kidney, ear, and eye, leading to progressive loss of kidney function, hearing loss, and eye abnormalities.

Etymology

The condition is named after Dr. Arthur Cecil Alport, who first described it in 1927.

Definition

Alport Syndrome is a rare genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. It is caused by mutations in the COL4A3, COL4A4, or COL4A5 genes, which are responsible for the production of a protein essential for the normal structure and function of the basement membrane in the kidneys, ears, and eyes.

Symptoms

The primary symptoms of Alport Syndrome include:

Hematuria: Blood in the urine, often the first sign of the disease.
Proteinuria: High levels of protein in the urine.
End-stage kidney disease: Progressive loss of kidney function over time.
Hearing loss: Often occurs by late childhood or early adolescence.
Eye abnormalities: Including anterior lenticonus and dot-and-fleck retinopathy.

Diagnosis

Diagnosis of Alport Syndrome is based on the patient's clinical symptoms, family history, and specialized tests such as genetic testing, kidney biopsy, and examination of the eyes and ears.

Treatment

There is currently no cure for Alport Syndrome. Treatment focuses on managing symptoms and slowing the progression of kidney disease. This may include medications to control blood pressure and proteinuria, hearing aids for hearing loss, and kidney transplantation in severe cases.

Related Terms

External links

Medical encyclopedia article on Alport syndrome
Wikipedia's article - Alport syndrome

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