1. A Characteristic Dissection Microscopy Appearance of a Renal Biopsy of a Fabry Heterozygote
- Author
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Nancy Wah-Fun Yuen, Tat-Chong Chow, Man Chun Chiu, and Ching-Wan Lam
- Subjects
Heterozygote ,Pathology ,medicine.medical_specialty ,Adolescent ,Biopsy ,Kidney Glomerulus ,Urine ,urologic and male genital diseases ,Humans ,Medicine ,Kidney ,Proteinuria ,medicine.diagnostic_test ,urogenital system ,business.industry ,Vascular disease ,Epithelial Cells ,Histology ,Heterozygote advantage ,General Medicine ,medicine.disease ,Fabry disease ,medicine.anatomical_structure ,Nephrology ,Microscopy, Electron, Scanning ,Fabry Disease ,Female ,Renal biopsy ,medicine.symptom ,business - Abstract
We report a 15-year-old Fabry heterozygote presenting to us with asymptomatic proteinuria. During the dissection-microscopic examination, the glomeruli exhibited a characteristic swollen, glistening and white appearance. They were swollen and bulged out from the surface of the renal core. The glomerular tufts appeared to be filled with opaque and whitish material giving them a pale white discoloration. This appearance is due to the accumulation of glycosphingolipids in visceral epithelial cells of the kidney. This feature is important for the investigation of female patients with asymptomatic proteinuria, as in two thirds of Fabry heterozygotes the characteristic skin lesions are absent, and thus heterozygous Fabry disease may not be considered. We suggest that this easily demonstrable appearance can be the first evidence for the disease and pathologists should be aware of it in future.
- Published
- 1997