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Fabry's disease—glycolipid lipidosis

1966; Elsevier BV; Volume: 40; Issue: 4 Linguagem: Inglês

10.1016/0002-9343(66)90123-9

1555-7162

Phillip Frost, Yasukazu Tanaka, George L. Spaeth,

Cellular transport and secretion

Abstract The histochemical and electron microscopic findings in biopsy specimens from two patients with Fabry's disease are presented. Biopsy samples of striated muscle, skin, rectal and conjunctival tissue, and bone marrow aspirates and urinary sediments were examined. Sudan black B- and periodic acid-Schiff-positive granules were seen in endothelial and smooth muscle cells of blood vessels and in histiocytes of the supporting connective tissue. Bone marrow samples and urinary sediments contained large cells with doubly refractile granules. On electron microscopy, these granules were shown to consist of alternating electron-opaque and light regions with a periodicity of 40 to 50 Angstrom units and an opaque line thickness of 20 to 27 Angstrom units. These granules were assumed to contain the glycolipid recently isolated and characterized from similar patients with similar signs and symptoms. The relation of these deposits to the pathogenesis of the disease and its signs and symptoms is discussed briefly.