Fabry's disease: Difference between revisions

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{{Fabry's disease}}
{{Fabry's disease}}
{{CMG}}; {{AE}} {{AN}}
{{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 overview|Overview]] ==
 
*
*


==[[Fabry's disease historical perspective|Historical Perspective]]==
==[[Fabry's disease historical perspective|Historical Perspective]]==
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==Diagnosis==
==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==


==Treatment==
[[Fabry's disease medical therapy|Medical Therapy]] | [[Fabry's disease surgery|Surgery]] | [[Fabry's disease primary prevention|Primary Prevention]] | [[Fabry's disease secondary prevention|Secondary Prevention]] | [[Fabry's disease cost-effectiveness of therapy|Cost-Effectiveness of Therapy]] | [[Fabry's disease future or investigational therapies|Future or Investigation Therapies]]
 
==Case Studies==
 
[[Fabry's disease case study one|Case #1]]


==External links==
==External links==
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* [http://www.apmf-fabry.org/ Fabry's Disease Association]
* [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>


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[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]]
[[fr:Maladie de Fabry]]
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[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
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[[Category:Genetic disorders]]
[[Category:Genetic disorders]]

Latest revision as of 20:07, 23 May 2022

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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

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


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

Treatment

Medical Therapy | Surgery | Primary Prevention | Secondary Prevention | Cost-Effectiveness of Therapy | Future or Investigation Therapies

Case Studies

Case #1

External links

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