[Diagnosis of Fabry's disease].
On the basis of a study of 9 new cases of Fabry's disease  (7 hemizygotes and 2 heterozygotes), the authors recall that the disease often presents as a painful syndrome of the extremities but its exact nature usually remains obscure for long periods. The association of such pain with angiokeratomas and the notion of a family history is highly suggestive of the disease. The biochemical possibilities in the diagnosis of the latter are described. All patients underwent transcutaneous renal biopsy. In the 7 hemizygotes and one of the heterozygotes, light microscopy revealed diffuse characteristic vacuolisation of the glomerular cells. In the other heterozygote, the glomerular lesions were very limited, seen only by electron microscopy.
D000293:Adolescent; D000328:Adult; D001707:Biopsy, Needle; D002648:Child; D003316:Corneal Diseases / Q000209:etiology; D005121:Extremities; D000795:Fabry Disease / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D002517:Galactosylgalactosylglucosylceramidase / Q000097:blood; D005838:Genotype; D006801:Humans; D007668:Kidney / Q000473:pathology; D007678:Kidney Glomerulus / Q000648:ultrastructure; D007962:Leukocytes / Q000201:enzymology; D008297:Male; D008854:Microscopy, Electron; D008875:Middle Aged; D010146:Pain / Q000209:etiology; D010375:Pedigree; D012878:Skin Neoplasms / Q000175:diagnosis* / Q000235:genetics; D014617:Vacuoles
D002517:Galactosylgalactosylglucosylceramidase
Diagnostic de la maladie de Fabry