Alport syndrome – Causes and symptoms of Alport Syndrome

Alport syndrome is a group of inherited disorders that affects the kidney, hearing and the visual field. The symptoms may start appearing at any age and the main defect occurs at the basement membranes of the kidney. People who inherit this defective gene for the collagen proteins in the basement membranes may develop progressive loss of kidney function, ear and eye. It is an inherited disease where a genetic defect of the X chromosome called as X linked or it may be in an autosomal recessive form or autosomal dominant form. This disorder is also called hereditary nephritis.

Causes of Hereditary Nephritis

In this condition there is an inflammation of nephron which is the functional unit of the kidney.
The main cause is this type of chronic disorder of the kidney runs in families.
One of the cause is glomerulonephritis and the causes of this disease include:


Post-streptococcal nephritis: Inflammation can occur after a streptococcal infection in your throat .
Viral infections: Among the viral infections that triggers this disorder are HIV which causes AIDS and the hepatitis B and C viruses.

Immune Diseases

Lupus: chronic inflammation of the lupus can affect the kidneys.
IgA nephropathy: When there are episodes of blood in the urine, this results from the deposits of immunoglobulin (IgA) in the glomeruli.

Symptoms of Alport Syndrome

The symptoms include:

  • Blood in urine
  • Visual impairment
  • Cough
  • Foot swelling
  • Leg swelling
  • Cataracts
  • Flat nose bridge
  • Thin upper lip
  • Myopia
  • Deafness
  • Mental retardation
  • Poor head control in infants
  • Nephritis
  • Speech retardation
  • Finger abnormalities
  • Reduced muscle tone
  • Wide-set eyes
  • Kidney failure
  • Deposits in the eye
  • Glomerulonephritis
  • Ankle swelling
  • Joint hyperextensibility
  • Growth retardation
  • Feeding difficulties in infants
  • Highly arched palate
  • Forward tilting nostrils
  • Generalised swelling

When to consult your doctor?

Consult your doctor when you have these signs or symptoms of hereditary nephritis. Make an appointment and follow the advise given by your doctor promptly.

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