Cytoplasmic inclusions of Fabry's disease. Ultrastructural demonstration of their presence in urine sediment.

The diagnosis of Fabry's disease (angiokeratoma corporis diffusum universale) is usually confirmed by demonstrating typical cytoplasmic inclusions in a renal biopsy specimen, in conjunction with typical skin and ocular lesions and deficient alpha-galactosidase A activity in a male patient. Affected men are usually associated with carrier female family members. Electron microscopy of the urine sediment from two patients with Fabry's disease demonstrated typical laminated cytoplasmic inclusions within exfoliated epithelial cells. This method may be useful in the diagnosis of Fabry's disease and in screening of kin for hemizygotes and female carriers.