[Lipid thesaurismosis rheumatism. Arthropathies in alpha galactosidase A deficiency (Fabry's disease). Ultrastructural study of the synovial membrane demonstrating microcrystals in the mitochondria of synoviocytes].
Articular manifestations may be the onset of genetic alpha galactosidase deficiency (Fabry's disease). Ultrastructural study shows typical osmiophilic lamellar inclusions of trihexosylceramides in synoviocytes, capillaries and adipocytes. Furthermore microcrystals identical to those seen in Gaucher's disease and type II hyperlipoproteinemia were observed in mitochondria and free in cytoplasm. These data suggest a microcrystalline pathogenesis of these arthropathies, as in gout and chondrocalcinosis, and what we have generally called crystallopathic arthropathies.
D000328:Adult; D003593:Cytoplasm / Q000648:ultrastructure; D000795:Fabry Disease / Q000473:pathology*; D005260:Female; D005696:Galactosidases / Q000172:deficiency*; D006801:Humans; D008928:Mitochondria / Q000378:metabolism / Q000648:ultrastructure; D012216:Rheumatic Diseases / Q000473:pathology*; D013583:Synovial Membrane / Q000473:pathology / Q000648:ultrastructure*; D014281:Trihexosylceramides / Q000378:metabolism
D014281:Trihexosylceramides; D005696:Galactosidases
Le rhumatisme des thésaurismoses à lipides. Arthropathies au cours de la carence en alpha galactosidase A (maladie de Fabry). Etude ultrastructurale de la membrane synoviale avec mise en évidence de microcristaux dans les mitochondries des synoviocytes.