What are the 3 types of Gaucher disease?
There are three varieties of type 3 Gaucher: 3a, 3b, and 3c. But these forms sometimes overlap in symptoms. Type 3b may cause liver or spleen problems earlier….Cardiovascular Gaucher may also cause these symptoms in kids:
- Eye problems.
- Bone pain.
- Bones break easily.
- Mildly enlarged spleen.
What is Neuronopathic Gaucher disease?
Gaucher disease type 2, also known as acute neuronopathic Gaucher disease, occurs in newborns and infants and is characterized by neurological complications due to the abnormal accumulation of glucocerebroside in the brain.
What is the enfermedad of Gaucher Tipo?
Enfermedad de Gaucher tipo letal perinatal Es el tipo más grave de la enfermedad y causa complicaciones graves o que ponen en peligro la vida desde el nacimiento. Señales y los síntomas pueden incluir: Hinchazón extensa causada por la acumulación de líquido dentro del cuerpo, desde antes del nacimiento (hidropesía fetal)
What are the treatment options for Gaucher disease Type 3?
For type 3 patients without severe or worsening brain involvement, Gaucher disease treatment can minimize signs and symptoms and improve overall health. Available treatments include enzyme replacement therapy (ERT) and substrate reduction therapy (SRT).
What are the side effects of Gaucher disease?
Most people who have Gaucher disease have varying degrees of the following problems: Abdominal complaints. Because the liver and especially the spleen can enlarge dramatically, the abdomen can become painfully distended. Skeletal abnormalities. Gaucher disease can weaken bone, increasing the risk of painful fractures.
Where does the fat build up in Gaucher disease?
Gaucher disease is a genetic disorder where fat-laden Gaucher cells build up in areas like the spleen, liver and bone marrow. A person will get Gaucher Disease if both parents are carriers of the disease. It is one of the most common lysosomal storage disorders.