Fabry's disease: Difference between revisions

	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 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 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
CDC on Fabry's disease
Fabry's disease in the news
Blogs on Fabry's disease
Directions to Hospitals Treating Fabry's disease
Risk calculators and risk factors for Fabry's disease

VisualWikitext

Latest revision as of 20:07, 23 May 2022

Template:DiseaseDisorder infobox

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:

Differentiating Fabry's disease from other Diseases

Natural History, Complications and Prognosis

Diagnosis

Treatment

Case Studies

Case #1

External links

Fabry Support & Information Group
Template:NINDS
Fabry's disease at NLM Genetics Home Reference
Fabry's Disease Association

References

[1] Caterina Bartolotta, Marcello Filogamo, Paolo Colomba, Carmela Zizzo, Giuseppe Albeggiani, Simone Scalia, Daniele Francofonte, Giuseppe Cammarata, Vincenzo Savica, Giovanni Duro, FP907 HISTORY OF ANDERSON - FABRY DISEASE, Nephrology Dialysis Transplantation, Volume 30, Issue suppl_3, 1 May 2015, Page iii379, https://doi.org/10.1093/ndt/gfv186.08

[2] Eng CM, Germain DP, Banikazemi M, et al. Fabry disease: guidelines for the evaluation and management of multi-organ system involvement. Genet Med 2006;8: 539–548.

[3] Elleder M, Poupĕtová H, Kozich V . Fetal pathology in Fabry’s disease and mucopolysaccharidosis type I. Cesk Patol 1998;34:7–12.

[4] Thurberg BL, Politei JM . Histologic abnormalities of placental tissues in Fabry disease: a case report and review of the literature. Hum Pathol 2012;43:610–614. [5] Deegan PB, Baehner AF, Barba Romero MA, Hughes DA, Kampmann C, Beck M; European FOS Investigators. Natural history of Fabry disease in females in the Fabry Outcome Survey. J Med Genet. 2006 Apr;43(4):347-52. Epub 2005 Oct 14. Citation on PubMed or Free article on PubMed Central

@@ Line 16: / Line 16: @@
 }}
 {{Fabry's disease}}
-{{CMG}}; {{AE}} {{AN}} {{Neepa Shah}}
+{{CMG}}; {{AE}}
-{{SK}} Anderson-Fabry disease; angiokeratoma corporis diffusum universale; alpha-galactosidase A deficiency; ceramide trihexosidase deficiency; hereditary dystopic lipidosis; GLA deficiency; Sweeley-Klionsky disease
 ==[[Fabry's disease overview|Overview]]  ==
-*'''Fabry's disease''' (also known as '''alpha-galactosidase A deficiency, ceramide trihexosidase deficiency, angiokeratoma corporis diffusum)''' is an [[X-linked recessive]] inherited [[Lysosomal storage disease|lysosomal storage disorder.]]
+*
-*It occurs as a result of the body's inability to make an enzyme alpha-galactosidase A. This enzyme in-turn is responsible for breaking down a type of fat called [[Globotriaosylceramide 3-beta-N-acetylgalactosaminyltransferase|globotriaosylceramide]] (Gb3 or GL-3) into building blocks that are used by the cells of the body.
+*
-*The abnormal accumulation of this fat typically in three main organ systems namely the brain, heart and kidney is responsible for the varied manifestations associated with the disease
 ==[[Fabry's disease historical perspective|Historical Perspective]]==
 ==[[Fabry's disease classification|Classification]]==
@@ Line 51: / Line 43: @@
 ==Diagnosis==
-[[Fabry's disease history and symptoms|History and Symptoms]] | [[Fabry's disease physical examination|Physical Examination]] | [[Fabry's disease laboratory findings|Laboratory Findings]] | [[Fabry's disease electrocardiogram|Electrocardiogram]] | [[Fabry's disease CT|CT]] | [[Fabry's disease MRI|MRI]] | [[Fabry's disease echocardiography or ultrasound|Echocardiography or Ultrasound]] | [[Fabry's disease other imaging findings|Other Imaging Findings]] | [[Fabry's disease other diagnostic studies|Other Diagnostic Studies]]
 ==Treatment==
@@ Line 68: / Line 58: @@
 * [http://www.apmf-fabry.org/ Fabry's Disease Association]
+== References ==
+[1] Caterina Bartolotta, Marcello Filogamo, Paolo Colomba, Carmela Zizzo, Giuseppe Albeggiani, Simone Scalia, Daniele Francofonte, Giuseppe Cammarata, Vincenzo Savica, Giovanni Duro, FP907
+HISTORY OF ANDERSON - FABRY DISEASE, ''Nephrology Dialysis Transplantation'', Volume 30, Issue suppl_3, 1 May 2015, Page iii379, <nowiki>https://doi.org/10.1093/ndt/gfv186.08</nowiki>
+{{WikiDoc Help Menu}}
+[2] Eng CM, Germain DP, Banikazemi M, et al. Fabry disease: guidelines for the evaluation and management of multi-organ system involvement. ''Genet Med'' 2006;8: 539–548.
+[3] Elleder M, Poupĕtová H, Kozich V . Fetal pathology in Fabry’s disease and mucopolysaccharidosis type I. ''Cesk Patol'' 1998;34:7–12.
+[4] Thurberg BL, Politei JM . Histologic abnormalities of placental tissues in Fabry disease: a case report and review of the literature. ''Hum Pathol'' 2012;43:610–614.
 [[fr:Maladie de Fabry]]
-{{WikiDoc Help Menu}}
+[5] Deegan PB, Baehner AF, Barba Romero MA, Hughes DA, Kampmann C, Beck M; European FOS Investigators. Natural history of Fabry disease in females in the Fabry Outcome Survey. J Med Genet. 2006 Apr;43(4):347-52. Epub 2005 Oct 14. Citation on PubMed or Free article on PubMed Central
-{{WikiDoc Sources}}
 [[Category:Genetic disorders]]