Gaucher disease

Gaucher disease: 

Gaucher disease Fabiola Cardona 10W

What is gaucher disease?: 

What is gaucher disease ? Gaucher disease is an inherited disorder that affects many of the body's organs and tissues. This disease is caused by a deficiency of the enzyme glucocerebrosidase , which helps the body process the fatty substance glucocerebroside . This makes fatty substances accumulate in excessive levels that harm the liver, spleen, lungs, bone marrow and less commonly, brain.

Types of gaucher disease: 

Types of gaucher disease Researchers have described several types of Gaucher disease based on their characteristic features.

Type 1- Nonneuronopathic form: 

Type 1- Nonneuronopathic form symptoms include enlargement of the liver and spleen , anemia, lung disease,and bone abnormalities . (fractures, bone pain arthritis ) It can appear anytime from childhood to adulthood

Type 2 - Acute neuronopathic form Type 3 - Chronic neuronopathic form: 

Type 2 - Acute neuronopathic form Type 3 - Chronic neuronopathic form These types of Gaucher diseases are characterized by only affecting the central nervous system . Symptoms are abnormal eye movements, seizures, and brain damage . Type 2 is usually known for causing life- threatning medical problems and for beginning at an early age, while type 3 tends to progress more slowly than type 2.

PowerPoint Presentation: 

Gaucher disease occurs in 1 in 50,000 to 100,000 people in the general population It's most common in Jewish people of Eastern and Central European descent (Ashkenazi ). Type 1 is the most common.

What causes gaucher disease?: 

What causes gaucher disease ? This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Prognosis and treatment: 

Prognosis and treatment There's no specific treatment for type 2 Gaucher's disease . To treat type 1 or 3 Gaucher's disease: Enzyme replacement therapy - replaces the deficient enzyme with artificial enzymes . Aqlthough results can vary, its most effective in people with type 1, and sometimes type 3. In many people, this treatment can reduce the enlargement of the liver and spleen. Bone marrow transplantation- This has only been used in severe cases, it helps reverse the symptoms.

sources: 

sources www.thirdage.com gauchercare.com

Works cited: 

Works cited http:// ghr.nlm.nih.gov/condition/gaucher-disease http:// www.mayoclinic.com/health/gauchers-disease/DS00972/DSECTION=treatments-and-drugs http:// www.mayoclinic.com/health/gauchers-disease/DS00972