Fabry's disease laboratory findings: Difference between revisions
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Created page with "{{Fabry's disease}} {{CMG}} ==Overview== ==Laboratory Findings== *Blood tests **Anemia **Serum creatinine may be raised from chronic renal failure **Serum [[ur..." |
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==Laboratory Findings== | ==Laboratory Findings== | ||
*Blood tests | *Blood tests | ||
**[[Anemia]] | **[[Anemia]] | ||
**[[Serum creatinine]] may be raised from [[chronic renal failure]] | **[[Serum creatinine]] may be raised from [[chronic renal failure]] | ||
**Serum [[urea]] may be elevated | **Serum [[urea]] may be elevated | ||
**[[BUN]] may be raised | **[[BUN]] may be raised | ||
**Electrolyte disturbance maybe presented due to renal failure | |||
*[[Urinalysis]]: | *[[Urinalysis]]: | ||
**[[Hematuria]] | **[[Hematuria]] | ||
**[[Proteinuria]] | **[[Proteinuria]] | ||
**Mulberry bodies [distal epithelial cell+ [[Globotriaosylceramide 3-beta-N-acetylgalactosaminyltransferase|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] | |||
==References== | ==References== | ||
{{Reflist|2}} | {{Reflist|2}} | ||
Revision as of 18:26, 9 April 2022
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
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]