Fabry's disease laboratory findings: Difference between revisions
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{{Fabry's disease}} | {{Fabry's disease}} | ||
{{CMG}} {{AE}} | {{CMG}} {{AE}} {{GhazalS}} | ||
==Overview== | ==Overview== | ||
A 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 vary due to organ involvement. | |||
==Laboratory Findings== | ==Laboratory Findings== | ||
*Blood tests | *Blood tests | ||
**[[Anemia]] | **[[Anemia]]<ref name="pmid15840043">{{cite journal| author=Kleinert J, Dehout F, Schwarting A, de Lorenzo AG, Ricci R, Kampmann C | display-authors=etal| title=Anemia is a new complication in Fabry disease: data from the Fabry Outcome Survey. | journal=Kidney Int | year= 2005 | volume= 67 | issue= 5 | pages= 1955-60 | pmid=15840043 | doi=10.1111/j.1523-1755.2005.00294.x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15840043 }}</ref> | ||
**[[Serum creatinine]] may be raised from [[chronic renal failure]] | **[[Serum creatinine]] may be raised from [[chronic renal failure]]<ref name="pmid21290670">{{cite journal| author=Mehta A, Beck M, Sunder-Plassmann G| title=Fabry Disease: Perspectives from 5 Years of FOS | journal= | year= 2006 | volume= | issue= | pages= | pmid=21290670 | doi= | pmc= | url= }}</ref> | ||
**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 | **Electrolyte disturbance maybe presented due to renal failure<ref name="pmid28613767">{{cite journal| author=| title=StatPearls | journal= | year= 2022 | volume= | issue= | pages= | pmid=28613767 | doi= | pmc= | url= }}</ref> | ||
*[[Urinalysis]]: | *[[Urinalysis]]: | ||
**[[Hematuria]] | **[[Hematuria]] | ||
**[[Proteinuria]] | **[[Proteinuria]]<ref name="pmid16350834">{{cite journal| author=Strujić BJ, Jeren T| title=Fabry disease--a diagnostic and therapeutic problem. | journal=Ren Fail | year= 2005 | volume= 27 | issue= 6 | pages= 783-6 | pmid=16350834 | doi=10.1080/08860220500244856 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16350834 }}</ref> | ||
**Mulberry bodies (distal epithelial cell+ [[Globotriaosylceramide 3-beta-N-acetylgalactosaminyltransferase|globotriaosylceramide]] accumulation) | **Mulberry bodies (distal epithelial cell+ [[Globotriaosylceramide 3-beta-N-acetylgalactosaminyltransferase|globotriaosylceramide]] accumulation)<ref name="pmid28593486">{{cite journal| author=Shimohata H, Maruyama H, Miyamoto Y, Takayasu M, Hirayama K, Kobayashi M| title=Urinary mulberry cells and mulberry bodies are useful tool to detect late-onset Fabry disease. | journal=CEN Case Rep | year= 2017 | volume= 6 | issue= 2 | pages= 148-151 | pmid=28593486 | doi=10.1007/s13730-017-0262-5 | pmc=5694400 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=28593486 }}</ref> | ||
*[[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<ref name="pmid29974530">{{cite journal| author=Üçeyler N, Böttger J, Henkel L, Langjahr M, Mayer C, Nordbeck P | display-authors=etal| title=Detection of blood Gb3 deposits as a new tool for diagnosis and therapy monitoring in patients with classic Fabry disease. | journal=J Intern Med | year= 2018 | volume= 284 | issue= 4 | pages= 427-438 | pmid=29974530 | doi=10.1111/joim.12801 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=29974530 }}</ref> | ||
==Genetic Testing== | ==Genetic Testing== | ||
*Detection of GLA gene mutation | *Detection of GLA gene mutation (after recognition of dropped alpha-galactosidase A activity in male patients, first place after suspected in females). | ||
==References== | ==References== | ||
{{Reflist|2}} | {{Reflist|2}} | ||
[[Category:Needs english review]] | |||
Latest revision as of 10:31, 14 July 2022
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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.