Atypical Fabry's disease presenting with cholesterol crystal embolization

Citation
T. Shirai et al., Atypical Fabry's disease presenting with cholesterol crystal embolization, INTERN MED, 39(8), 2000, pp. 646-649
Citations number
20
Language
INGLESE
art.tipo
Article
Categorie Soggetti
General & Internal Medicine
Journal title
INTERNAL MEDICINE
ISSN journal
0918-2918 → ACNP
Volume
39
Issue
8
Year of publication
2000
Pages
646 - 649
Database
ISI
SICI code
0918-2918(200008)39:8<646:AFDPWC>2.0.ZU;2-X
Abstract
We describe a 65-year-old man who presented with pulmonary hemorrhage and p rogressive renal insufficiency three months after resection surgery for an abdominal aortic aneurysm. Intensive treatment with corticosteroids and hem odialysis were not effective, and the patient died. Postmortem examination of the kidneys revealed widespread cholesterol clefts within the renal arte rioles and a number of lamellar inclusion bodies were observed by electron microscopy, The diagnosis of Fabry's disease was made by the absence of pla sma a-galactosidase A activity. This was a very rare case of subclinical Fa bry's disease coexistent with cholesterol crystal embolization, mimicking p ulmonary-renal syndrome.