Nephrotic Syndrome

Fabry's disease is the result of a mutation in the gene coding for the enzyme alpha-galactosidase A. This leads to the intracellular accumulation of neutral glycosphingolipids with terminal linked alpha-linked galactose residues.

The gene is found on the X chromosome. Both sexes may be affected, males more severely, having no enzyme activity.

It is a multisystem disorder affecting:

	Kidneys	Mild to moderate proteinuria with rarely nephrotic syndrome. Gradual deterioration in renal function, with hypertesion and ESRD developing by the 4th to 5th decade in men.
	Heart	Glycosphingolipid accumulation in coronary arteries leads to ischaemic heart disease.
	CNS	Autonomic dysfunction is a prominent feature. Also cerebrovascular events are seen later on in the disease. Paresthesias can be a major problem.
	Skin	Angiokeratomas appear by the 2nd decade of life. Dark red macules or papules of various sizes.
	Eyes	Corneal opacities.
	Lungs	Airway narrowing can develop.

Treatment is now available in the form of enzyme replacement.

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