Fabry's disease laboratory findings: Difference between revisions

Jump to navigation Jump to search
No edit summary
Line 19: Line 19:
**[[Hematuria]]
**[[Hematuria]]
**[[Proteinuria]]
**[[Proteinuria]]
**Mulberry bodies [distal epithelial cell+ [[Globotriaosylceramide 3-beta-N-acetylgalactosaminyltransferase|globotriaosylceramide]] accumulation]
**Mulberry bodies (distal epithelial cell+ [[Globotriaosylceramide 3-beta-N-acetylgalactosaminyltransferase|globotriaosylceramide]] accumulation)
*[[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



Revision as of 18:01, 9 May 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:

Overview

An reduced concentration of serum Alpha-galactosidase A activity or its activity is diagnostic of Fabry's disease.

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