FABRY disease (angiokeratoma corporis diffusum universale) is a rare, sex-linked, familial disease associated with deficiency of the enzyme ceramide trihexosidase.1 The lipid trihexosylceramide accumulates in the blood and several tissues. Lesions occur in the skin and visceral organs, particularly the heart, blood vessels, central nervous system, and kidneys. In the involved skin, dark red macules and papules contain dilated superficial capillaries. Lipid-laden vacuolated cells are a characteristic component of the visceral lesions. Typical ultrastructural "myelin" figures occur within the vacuoles of affected cells. These structures are composed of dense laminations of lipid material, resembling myelin sheaths. Using electron microscopy, we attempted to detect myelin figures in a urine sample from a patient with renal involvement by Fabry disease.
Report of a Case
A 48-year-old man was admitted to Hahnemann Medical College Hospital for evaluation of proteinuria and intermittent febrile episodes. Proteinuria was first noted at the age of 24
Katz SM, Lyons PJ. Urinary Ultrastructural Findings in Fabry Disease. JAMA. 1977;237(11):1121–1122. doi:10.1001/jama.1977.03270380065023
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