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]] activity or its activity is diagnostic of Fabry's disease. | |||
==Laboratory Findings== | ==Laboratory Findings== | ||
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**[[Hematuria]] | **[[Hematuria]] | ||
**[[Proteinuria]] | **[[Proteinuria]] | ||
**Mulberry bodies [distal epithelial cell+ [[Globotriaosylceramide 3-beta-N-acetylgalactosaminyltransferase|globotriaosylceramide]] accumulation] | **Mulberry bodies [distal epithelial cell+ [[Globotriaosylceramide 3-beta-N-acetylgalactosaminyltransferase|globotriaosylceramide]] accumulation] | ||
*[[Enzymatic]] analysis | *[[Enzymatic]] analysis | ||
**Drop activity of Alpha-galactosidase A activity [in male (hemizygote) patients, is not reliable in female and heterozygotes] | **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 | *Elevated of [[Gb3]] concentration in plasma or leukocytes | ||
== Genetic Testing == | ==Genetic Testing== | ||
* Detection of GLA gene mutation [ After Alpha-galactosidase A activity in male patients, First place after suspected in females] | *Detection of GLA gene mutation [ After Alpha-galactosidase A activity in male patients, First place after suspected in females] | ||
==References== | ==References== | ||
{{Reflist|2}} | {{Reflist|2}} | ||
Revision as of 19:38, 15 April 2022
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
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 Alpha-galactosidase A activity in male patients, First place after suspected in females]