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{{Fabry's disease}} | {{Fabry's disease}} | ||
{{CMG}} | {{CMG}} {{AE}} | ||
==Overview== | ==Overview== |
Revision as of 17:58, 9 May 2022
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief:
Overview
An reduced concentration of serum Alpha-galactosidase A activity or its activity is diagnostic of Fabry's disease.
Laboratory Findings
- Blood tests
- Anemia
- Serum creatinine may be raised from chronic renal failure
- Serum urea may be elevated
- BUN may be raised
- Electrolyte disturbance maybe presented due to renal failure
- Urinalysis:
- Hematuria
- Proteinuria
- Mulberry bodies [distal epithelial cell+ globotriaosylceramide accumulation]
- Enzymatic analysis
- Drop activity of Alpha-galactosidase A activity [in male (hemizygote) patients, is not reliable in female and heterozygotes]
- Elevated of Gb3 concentration in plasma or leukocytes
Genetic Testing
- Detection of GLA gene mutation [ After recognition of dropped Alpha-galactosidase A activity in male patients, First place after suspected in females]