Fabry's disease laboratory findings

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:

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 recognition of dropped Alpha-galactosidase A activity in male patients, First place after suspected in females]