What is hereditary nephritis?

INTRODUCTION. Alport syndrome (also referred to as hereditary nephritis) is an inherited progressive form of glomerular disease that is often associated with sensorineural hearing loss and ocular abnormalities [1].

How does Alport cause kidney failure?

Alport syndrome is a disease that damages the tiny blood vessels in your kidneys. It can lead to kidney disease and kidney failure. It can also cause hearing loss and problems within the eyes. Alport syndrome causes damage to your kidneys by attacking the glomeruli.

Is Alport syndrome autosomal recessive?

In approximately 15 percent of cases, Alport syndrome results from mutations in both copies of the COL4A3 or COL4A4 gene and is inherited in an autosomal recessive pattern . The parents of an individual with the autosomal recessive form of this condition each have one copy of the mutated gene and are called carriers.

What is BOR syndrome?

Branchiootorenal (BOR) syndrome is characterized by pits or ear tags in front of the outer ear (preauricular pits), abnormal passages from the throat to the outside surface of the neck (branchial fistulas), branchial cysts, malformations of the outer, middle and inner ear, hearing loss and kidney (renal) abnormalities.

Is Alport syndrome nephritic or nephrotic?

Alport syndrome is a nephritic syndrome caused by a mutation in the COL4A3, COL4A4, and COL4A5 genes that encode the alpha-5 chain of type IV collagen and results in altered type IV collagen strands.

Can you name the most common type of kidney disease?

The most common form of kidney disease is chronic kidney disease. Chronic kidney disease is a long-term condition that doesn’t improve over time. It’s commonly caused by high blood pressure.

What are the signs and symptoms of nephritis?

Common symptoms of nephritic syndrome are:

• Blood in the urine (urine appears dark, tea-colored, or cloudy)
• Decreased urine output (little or no urine may be produced)
• Swelling of the face, eye socket, legs, arms, hands, feet, abdomen, or other areas.
• High blood pressure.

What is the life expectancy of someone with Alport syndrome?

Alport Syndrome (COL4A5-Related) (COL4A5) Life expectancy is in middle age; however, new treatments are being tested that delay kidney failure and therefore extend life expectancy. Although symptoms are similar between all people affected by Alport syndrome, null variants are associated with earlier progression to end-stage renal disease.

Are kidney problems hereditary?

While most renal disorders are not hereditary, some kidney conditions have known inherited genetic components. Common hereditary kidney disorders include: Autosomal Dominant Polycystic Kidney Disease , a generally late-onset condition that leads to progressive cyst development.

What is tubulointerstitial nephritis?

Interstitial nephritis. Interstitial nephritis, also known as tubulointerstitial nephritis, is inflammation of the area of the kidney known as the interstitium, which consists of a collection of cells, extracellular matrix, and fluid surrounding the renal tubules.