Alport Syndrome: A genetic disorder that causes kidney, vision and hearing problems

By | February 11, 2013

Alport Syndrome: a genetic disorder that causes kidney, vision and hearing problems

Alport syndrome is an uncommon disease of a genetic origin that occurs mainly in children, mainly affects men, and women who have this disease have mild symptoms or none at all. It is an inherited disorder (usually linked to chromosome X) which affects the kidneys, ears and eyes, resulting in deafness and vision disorders.

It is transmitted from mothers to children, being boys whom have more marked symptoms and go on to develop the disease faster.

Alport syndrome

Alport syndrome

Causes:

The disease is due for alteration or missing of a5 chain of IV collagen. Occurs an alteration in the basal membrane structure that affects eyes, ears and kidneys.

Inherited, usually, as a genetic trait with dominant inheritance sex-linked, have been described more than 200 different mutations in COL4 A5 gene, located on the X chromosome (2q34).

Epidemiology:

The incidence of the disease is 1-2/10000 inhabitants and affects both sexes differently, progressing more quickly and more severely in men.

Symptoms:

There renal tissue inflammation (nephritis) of progressive evolution associated to sensor neural deafness, which usually starts before 10 years of age and eye abnormalities.

The inflammatory process leads to progressive renal accumulation of fluids and residues in the body that leads to terminal renal functional failure early, between adolescence and forty.

Risk factors include having a family history of Alport syndrome, nephritis, end stage renal disease in male family relatives, hearing loss before age 30, blood in the urine, glomerulonephritis (advanced stage of a group of kidney disorders, resulting in inflammation and the gradual and progressive destruction of the glomeruli, which are structures inside the kidney) and similar problems.

In women usually the disorder is mild, with minimal or no symptoms, but can pass the gene for the disorder to their children even if no symptoms.

By:  Enrique Arias Estabridis

2 thoughts on “Alport Syndrome: A genetic disorder that causes kidney, vision and hearing problems

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