Heritable disease

Hereditary Nephritis is a genetic disorder that primarily affects the kidney. It is also known as Alport Syndrome, named after the British physician Arthur Cecil Alport, who first identified the condition.

Overview

Hereditary Nephritis is characterized by glomerulonephritis, end-stage kidney disease, and often hearing loss. The disease is caused by mutations in the COL4A3, COL4A4, or COL4A5 genes. These genes are responsible for the production of the type IV collagen family of proteins, which are integral components of the glomerular basement membrane (GBM) in the kidneys. Mutations in these genes lead to abnormalities in the GBM, resulting in progressive kidney disease.

Symptoms

The symptoms of Hereditary Nephritis typically begin in early childhood, although they can appear later in life. The most common symptoms include hematuria (blood in the urine), proteinuria (protein in the urine), and progressive renal failure. Some patients may also experience sensorineural hearing loss and ocular abnormalities.

Diagnosis

Diagnosis of Hereditary Nephritis is based on clinical findings, family history, and genetic testing. Renal biopsy may also be performed to examine the structure of the GBM.

Treatment

There is currently no cure for Hereditary Nephritis. Treatment is focused on managing symptoms and slowing the progression of kidney disease. This may include medications to control blood pressure and proteinuria, dietary modifications, and in severe cases, dialysis or kidney transplantation.

Prognosis

The prognosis for individuals with Hereditary Nephritis varies. Some individuals may maintain normal kidney function into adulthood, while others may progress to end-stage renal disease in early adulthood.

See Also

• Kidney disease
• Genetic disorder
• Alport Syndrome
• Glomerulonephritis