[Foam cell nephropathy in heterozygous female with Fabry's disease].
We describe the clinical and pathological characteristics of a 49 year-old heterozygous female carrier of Anderson-Fabry's disease. Light microscopy and ultrastructural study of a renal biopsy showed the presence of foam cell nephropathy and galactosylceramide deposits affecting podocytes, the parietal epithelium of Bowman's capsule and the distal tubular cells, endothelial cells and medullary interstitial elements. Retrospectively, the presence of storage disease was confirmed in a hysterectomy specimen obtained two years previously. Our observation shows that heterozygotes for this disorder can not only carry and transmit the disease but may also develop pathological deposits in various organs. A renal biopsy from these carriers allows precise identification of the disease, facilitates adequate genetic counseling and gives the option of enzyme replacement therapy in patients who have pathological deposits.
Vera-Sempere
F J
FJ
Servicio de Anatomía Patológica, Hospital Universitario La Fe Avda. Campanar, s/n 46009 Valencia. vera_fco@gva.es
García
A
A
Sánchez
M A
MA
Moll
J L
JL
Pérez
A
A
D000795:Fabry Disease / Q000150:complications*; D005260:Female; D005487:Foam Cells; D006579:Heterozygote; D006801:Humans; D007674:Kidney Diseases / Q000150:complications* / Q000235:genetics* / Q000473:pathology; D008854:Microscopy, Electron; D008875:Middle Aged