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Fabry disease by Farshid Mokhberi

Fabry disease runs in families. It can have lots of different symptoms, including pain in the hands and feet and a specific kind of rash.When you have Fabry disease, a certain type of fatty substance builds up in your body. It narrows your blood vessels, which can hurt your skin, kidneys, heart, brain, and nervous system.

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Fabry disease by Farshid Mokhberi

  1. 1. By Farshid mokhberi Shahid beheshti University of Medical Sciences
  2. 2. Definition:  Fabry disease (also known as Fabry's disease, Anderson-Fabry disease, angiokeratoma corporis diffusum and alpha-galactosidase A deficiency) is a rare genetic lysosomal storage disease, inherited in an X-linked manner. It is a form of sphingolipidosis, as it involves dysfunctional metabolism of sphingolipids.
  3. 3. Pathophysiology  A deficiency of the enzyme alpha galactosidase A due to mutation causes a glycolipid known as globotriaosylceramide to accumulate within the blood vessels, other tissues, and organs.
  4. 4. Incidence  The incidence of Fabry disease is estimated to be between 1 in 40,000 to 1 in 120,000 live births
  5. 5. Inheritance  Xq21.3-q22  Genomic coordinates (GRCh37): X:100,652,778 - 100,663,000  The DNA mutations which cause the disease are X- linked dominant with incomplete penetrance in heterozygous females. The condition affects hemizygous males (i.e. all males), as well as homozygous, and in many cases heterozygous females.
  6. 6. Gene location:
  7. 7. Symptoms  Pain: Extremities or GI tract (Acroparesthesia)  Renal involvement: Proteinuria  Cardiac manifestations: Hypertension and cardiomyopathy  Dermatological manifestations: Angiokeratomas, Anhidrosis, hyperhidrosis, Raynaud's disease-like symptoms  Ocular manifestations: Keratopathy, cataracts, papilloedema, macular edema, optic atrophy  Other manifestations:Fatigue, neuropathy, tinnitus, vertigo, nausea, chemical imbalances, and diarrhea Stroke of unknown etiology in young adulthood.
  8. 8. Two major signs: angiokeratoma cataract
  9. 9. Raynaud's disease-like symptoms
  10. 10. Diagnosis  the diagnosis can usually be confirmed in males if there is low alpha-Gal A activity in leukocytes or plasma.  Molecular genetic analysis of the GLA gene is the most accurate method of diagnosis in female.  Kidney biopsy may also be suggestive of Fabry disease if excessive lipid buildup is noted.
  11. 11. Treatment  The first treatment for Fabry's disease was approved by FDA on April 24, 2003. Fabrazyme (agalsidase beta) was licensed to the Genzyme Corporation. It is an enzyme replacement therapy (ERT).  The pharmaceutical company Shire manufactures agalsidase alpha under the brand name Replagal as a treatment for Fabry's disease.
  12. 12. Prognosis  males was 58.2 years, compared with 74.7 years.  females 75.4 years compared with 80.0 years in the general population, according to registry data from 2001 to 2008.  The most common cause of death was cardiovascular disease, and most of those had received kidney replacements.
  13. 13. Thanks for your attention
  14. 14. Reffrenses: 1. http://www.uptodate.com 2. http://www.myoclinic.com 3. http://www.ncbi.nlm.nih.gov/pubmed 4.www.geneticreaserch.com 5. http://ghr.nlm.nih.gov/gene/GLA