Diagnostic value of kidney biopsy in heterozygous Fabry's disease.
We studied a case of abnormal renal pathologic findings in a female patient that were suggestive of Fabry's disease. Except for corneal clouding, no other clinical findings were consistent with this diagnosis. The serum and urinary enzyme levels were all within normal limits; the ceramide trihexoside level was slightly increased in the urine. We examined the pathologic changes in the context of the present knowledge of renal lesions in storage diseases.
D000328:Adult; D001706:Biopsy; D003937:Diagnosis, Differential; D000795:Fabry Disease / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D005260:Female; D005645:Fucosidosis / Q000175:diagnosis; D005733:Gangliosidoses / Q000175:diagnosis; D006579:Heterozygote; D006801:Humans; D007668:Kidney / Q000473:pathology* / Q000648:ultrastructure