Fabry's disease laboratory findings: Difference between revisions
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==Overview== | ==Overview== | ||
An reduced concentration of serum [[Alpha-galactosidase A deficiency|Alpha-galactosidase A]] | An reduced concentration of serum [[Alpha-galactosidase A deficiency|Alpha-galactosidase A]] level or its activity is diagnostic of Fabry's disease. Other laboratory findings can be vary due to the organ involvement. | ||
==Laboratory Findings== | ==Laboratory Findings== | ||
Revision as of 12:21, 23 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 level or its activity is diagnostic of Fabry's disease. Other laboratory findings can be vary due to the organ involvement.
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]