Fabry's Disease

A 20-year-old man presented with generalized acquired anhidrosis and heat intolerance which was confirmed by a sweat test. Other clinical features included severe pain of the extremities and cutaneous angiokeratomas. On electronmicroscopy, granules specific for Fabry'sdisease were observed in t...

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Veröffentlicht in:	Internal Medicine 1992, Vol.31(5), pp.682-685
Hauptverfasser:	KATO, Haruka, SATO, Kenichi, HATTORI, Susumu, IKEMOTO, Suguru, SHIMIZU, Mitsuyuki, ISOGAI, Yukihide
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult angiokeratoma corporis diffusum ceramide trihexoside Cytoplasmic Granules - ultrastructure Endothelium, Vascular - ultrastructure Fabry Disease - diagnosis Fabry Disease - enzymology Fabry Disease - pathology Humans Male α-galactosidase A
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Beschreibung
Zusammenfassung:	A 20-year-old man presented with generalized acquired anhidrosis and heat intolerance which was confirmed by a sweat test. Other clinical features included severe pain of the extremities and cutaneous angiokeratomas. On electronmicroscopy, granules specific for Fabry'sdisease were observed in the endothelial cells. Biochemical examination revealed a decreased level of serum α-galactosidase A. These findings confirmed the diagnosis of Fabry's disease. (Internal Medicine 31 : 682-685, 1992)
ISSN:	0918-2918 1349-7235
DOI:	10.2169/internalmedicine.31.682