martes, 10 de julio de 2012

Gaucher's Disease: MedlinePlus [NEW TOPIC PAGE]

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Gaucher's Disease: MedlinePlus



Gaucher's Disease

 
 
 
Gaucher's disease is a rare, inherited disorder that causes too much of a substance called glucocerebroside to build up in your spleen, liver, lungs, bones and sometimes in your brain. The buildup prevents these organs from working properly.
There are three types:
  • Type 1, the most common form, causes liver and spleen enlargement, bone pain and broken bones, and, sometimes, lung and kidney problems. It does not involve the brain. It can occur at any age.
  • Type 2, which causes severe brain damage, appears in infants. Most children who have it die by age 2.
  • In type 3, there may be liver and spleen enlargement, and signs of brain involvement appear gradually.
Gaucher's disease has no cure. Treatment options for types 1 and 3 include medicine and enzyme replacement therapy, which is usually very effective. There is no good treatment for the brain damage of type 2.
NIH: National Institute of Neurological Disorders and Stroke


Photomicrograph of Gaucher cell

MEDICAL ENCYCLOPEDIA  

National Institutes of Health


Gaucher Disease in Pregnancy ► http://www.otispregnancy.org/files/Gaucher_Disease_5_12.pdf07/05/2012 08:00 PM EDT

Source: Organization of Teratology Information Specialists - PDF
Related MedlinePlus Pages: Gaucher's Disease, Health Problems in Pregnancy



Miglustat (Zavesca) and Pregnancy ► http://www.otispregnancy.org/files/Miglustat_5_12_doc.pdf07/05/2012 08:00 PM EDT

Source: Organization of Teratology Information Specialists - PDF
Related MedlinePlus Page: Gaucher's Disease


Enzyme Replacement Therapy for Treatment of Gaucher Disease in Pregnancy and Breastfeeding ► http://www.otispregnancy.org/files/ERT_5_12.pdf07/05/2012 08:00 PM EDT

Source: Organization of Teratology Information Specialists - PDF
Related MedlinePlus Pages: Breast Feeding, Gaucher's Disease

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