Fabry's disease laboratory findings: Difference between revisions

Jump to navigation Jump to search
No edit summary
No edit summary
 
Line 3: Line 3:
{{Fabry's disease}}
{{Fabry's disease}}


{{CMG}} {{AE}}
{{CMG}} {{AE}} {{GhazalS}}


==Overview==
==Overview==

Latest revision as of 10:31, 14 July 2022


Fabry's disease Microchapters

Home

Patient Information

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Fabry's disease from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

History and Symptoms

Physical Examination

Laboratory Findings

Electrocardiogram

CT

MRI

Echocardiography or Ultrasound

Other Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Surgery

Primary Prevention

Secondary Prevention

Cost-Effectiveness of Therapy

Future or Investigational Therapies

Case Studies

Case #1

Fabry's disease laboratory findings On the Web

Most recent articles

Most cited articles

Review articles

CME Programs

Powerpoint slides

Images

American Roentgen Ray Society Images of Fabry's disease laboratory findings

All Images
X-rays
Echo & Ultrasound
CT Images
MRI

Ongoing Trials at Clinical Trials.gov

US National Guidelines Clearinghouse

NICE Guidance

FDA on Fabry's disease laboratory findings

CDC on Fabry's disease laboratory findings

Fabry's disease laboratory findings in the news

Blogs on Fabry's disease laboratory findings

Directions to Hospitals Treating Fabry's disease

Risk calculators and risk factors for Fabry's disease laboratory findings

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

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

  1. 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.
  2. Mehta A, Beck M, Sunder-Plassmann G (2006). "Fabry Disease: Perspectives from 5 Years of FOS". PMID 21290670.
  3. "StatPearls". 2022. PMID 28613767.
  4. Strujić BJ, Jeren T (2005). "Fabry disease--a diagnostic and therapeutic problem". Ren Fail. 27 (6): 783–6. doi:10.1080/08860220500244856. PMID 16350834.
  5. 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.
  6. 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.