[Fabry-Anderson's disease].
Fabry's disease was originally considered a skin disease. Mainly affected are epidermis, kidney, heart and vessels. Newer studies show that the disease is an inherited defect of metabolism with abnormal accumulation of "Zeramid-Tri- or-Dihexoside" in different organs. The main clinical symptoms are epidermal changes, cornea verticillata and kidney changes. The diagnosis is verified by kidney biopsy or biochemical analysis of blood and urine. The activity of alpha-galactosidase in the blood is reduced, the secretion of Zeramid-Trihexoside in urine is increased. Causal therapy still does not exist, different methodes of treatment are discussed but still in the experimental stage. A case report is given.
D000328:Adult; D001706:Biopsy; D000795:Fabry Disease / Q000175:diagnosis* / Q000378:metabolism / Q000473:pathology; D005234:Fatty Liver / Q000150:complications / Q000473:pathology; D005696:Galactosidases / Q000378:metabolism; D006017:Glycolipids / Q000378:metabolism; D006801:Humans; D007668:Kidney / Q000473:pathology; D008052:Lipid Metabolism, Inborn Errors / Q000378:metabolism; D008297:Male; D013107:Sphingolipids / Q000378:metabolism
D006017:Glycolipids; D013107:Sphingolipids; D005696:Galactosidases
Morbus Fabry-Anderson