Vascular changes in Fabry disease
- VernacularTitle:Fabry病二例患者的血管病变
- Author:
Wei ZHANG
;
Yun YUAN
;
Yanling YANG
;
Al ET
- Publication Type:Journal Article
- Keywords:
Lipoidosis;
Fabry disease;
Vascular diseases;
Renin angiotensin system
- From:
Chinese Journal of Neurology
2001;0(01):-
- CountryChina
- Language:Chinese
-
Abstract:
Objective To report the clinical and neuropathological features of two families with Fabry disease and discuss the role of vascular changes in pathological processes of the disease Methods The two probands came from different families were characterized as having severe pain in extremities,angiokeratoma and renal impairment In addition to burning feet,the family members presented with multi organ failure by the 4th or 5th decades Nerve suralis biopsies were performed in two probands and renal stereotactic biopsy was performed in the latter Results Much green material was accumulated in vascular smooth muscle cells and endothelial cells as well as in perineurium In semithin sections the accumulated material was composed of numerous osmiophilic granules Electromicroscopic examination demonstrated that the granules showed a electron dense or laminated pattern Similar osmiophilic granules were also found in kidney biopsy Additionally,loss of unmyelinated fibers appeared in nerve suralis Serum renin angiotensin system was activated in case 1 Conclusion Pathological findings confirmed the existence of Fabry disease in both families Vascular changes play an important role in early development of symptoms Additionally,elevated renin angiotensin activity may induce chronic hypertension ,which might accelerate the multi organ failure
