Ceramide Trihexosidosis (Fabry's Disease) without Skin Lesions

Abstract

Histologic, histochemical and electron microscopical studies of kidney tissue taken by open biopsy from two unrelated men with unexplained proteinuria revealed changes typical of Fabry's disease although neither patient had any other manifestations of the disease. Angiokeratoma and corneal opacities were absent. The diagnoses were confirmed by the demonstration of excessive excretion of trihexosylceramide and digalactosylceramide in the urine. Decreased activities of the leukocyte lysosomal hydrolase, α-galactosidase, were also found in both patients.