Fabry's disease laboratory findings
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Ghazal Sanadgol, M.D.[2]
Overview
A reduced concentration of serum alpha-galactosidase A level or its activity is diagnostic of Fabry's disease. Other laboratory findings can vary due to organ involvement.
Laboratory Findings
- Blood tests
- Anemia[1]
- Serum creatinine may be raised from chronic renal failure[2]
- Serum urea may be elevated
- BUN may be raised
- Electrolyte disturbance maybe presented due to renal failure[3]
- Urinalysis:
- Hematuria
- Proteinuria[4]
- Mulberry bodies (distal epithelial cell+ globotriaosylceramide accumulation)[5]
- 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[6]
Genetic Testing
- Detection of GLA gene mutation (after recognition of dropped alpha-galactosidase A activity in male patients, first place after suspected in females).
References
- ↑ Kleinert J, Dehout F, Schwarting A, de Lorenzo AG, Ricci R, Kampmann C; et al. (2005). "Anemia is a new complication in Fabry disease: data from the Fabry Outcome Survey". Kidney Int. 67 (5): 1955–60. doi:10.1111/j.1523-1755.2005.00294.x. PMID 15840043.
- ↑ Mehta A, Beck M, Sunder-Plassmann G (2006). "Fabry Disease: Perspectives from 5 Years of FOS". PMID 21290670.
- ↑ "StatPearls". 2022. PMID 28613767.
- ↑ Strujić BJ, Jeren T (2005). "Fabry disease--a diagnostic and therapeutic problem". Ren Fail. 27 (6): 783–6. doi:10.1080/08860220500244856. PMID 16350834.
- ↑ Shimohata H, Maruyama H, Miyamoto Y, Takayasu M, Hirayama K, Kobayashi M (2017). "Urinary mulberry cells and mulberry bodies are useful tool to detect late-onset Fabry disease". CEN Case Rep. 6 (2): 148–151. doi:10.1007/s13730-017-0262-5. PMC 5694400. PMID 28593486.
- ↑ Üçeyler N, Böttger J, Henkel L, Langjahr M, Mayer C, Nordbeck P; et al. (2018). "Detection of blood Gb3 deposits as a new tool for diagnosis and therapy monitoring in patients with classic Fabry disease". J Intern Med. 284 (4): 427–438. doi:10.1111/joim.12801. PMID 29974530.