Type 3, the subacute neurological form, affects children or adolescents and is characterized by progressive encephalopathy oculomotor apraxia, epilepsy and ataxia with the systemic manifestations seen in type 1. The fetal form manifests with a decrease or absence of fetal movements or anasarca. GD is due to mutations in the GBA gene 1q21 that codes for a lysosomal enzyme, glucocerebrosidase, or in very rare cases the PSAP gene that codes for its activator protein saposin C.
The deficiency in glucocerebrosidase leads to the accumulation of glucosylceramide or beta-glucocerebrosidase deposits in the cells of the reticuloendothelial system of the liver, the spleen and the bone marrow Gaucher cells. Formal diagnosis of the disease is determined by the measurement of glucocerebrosidase levels in circulating leukocytes.
Genotyping confirms the diagnosis. Differential diagnoses include other lysosomal storage disorders. The presence of Gaucher-like cells can be found in certain hematologic diseases lymphoma, Hodgkin's lymphoma and chronic lymphocytic leukemia; see these terms. There are two available treatments for GD type 1 and 3: enzyme substitution therapy using imiglucerase or velaglucerase and substrate reduction therapy miglustat.
These treatments are ineffective for GD type 2. The prognosis is good in GD type 1. In type 2, death usually occurs before the age of 2. Without specific treatment, GD type 3 progresses to death within a few years. Other search option s Alphabetical list. Call your provider if you have new symptoms, such as joint pain or seizures. Also let your provider know if your treatment is no longer helping to control your original symptoms.
Health Home Conditions and Diseases. There are 3 types of Gaucher disease: Type 1. This is the most common type of Gaucher disease. This can make you bruise easily and feel very tired fatigued. Your symptoms can start at any age. You might have an enlarged liver or spleen.
You may also have kidney, lung, or skeletal problems. Type 2. This form of the disease affects babies by age 3 to 6 months. It is fatal. Type 3. Symptoms include skeletal problems, eye movement disorders, seizures that become more obvious over time, blood disorders, breathing problems, and liver and spleen enlargement.
What causes Gaucher disease? What are the symptoms of Gaucher disease? Symptoms of Gaucher disease can include: Enlarged spleen Enlarged liver Eye movement disorders Yellow spots in the eyes Not having enough healthy red blood cells anemia Extreme tiredness fatigue Bruising Lung problems Seizures How is Gaucher disease diagnosed?
Your provider will also look at: Your description of symptoms Your family medical history Blood test results Because Gaucher disease has so many different symptoms, it can take time to get an accurate diagnosis.
How is Gaucher disease treated? There is no cure for Gaucher disease. But treatment can help you control your symptoms. Your treatment will depend on what type of Gaucher disease you have. Treatment may include: Enzyme replacement therapy, which is effective for types 1 and 3 Medicines Regular physical exams and bone density screening to check your disease Bone marrow transplant Surgery to remove all or part of your spleen Joint replacement surgery Blood transfusions What are the complications of Gaucher disease?
The symptoms of Type 1 Gaucher disease include bone disease, hepatosplenomegaly, anemia and thrombocytopenia, and lung disease. The symptoms in Type 2 and Type 3 Gaucher disease include those of Type 1 and other problems involving the nervous system such as eye problems, seizures and brain damage. In Type 2 Gaucher disease, severe medical problems begin in infancy. These individuals usually do not live beyond age two.
There are also some patients with Type 2 Gaucher disease that die in the newborn period, often with severe skin problems or excessive fluid accumulation hydrops.
Individuals with Type 3 Gaucher disease may have symptoms before they are two years old, but often have a more slowly progressive disease process and the extent of brain involvement is quite variable. They usually have slowing of their horizontal eye movements. Recently it has been observed that both patients with Gaucher disease and Gaucher carriers have an increased risk of developing Parkinson disease and related disorders.
The diagnosis of Gaucher disease is based on clinical symptoms and laboratory testing. A diagnosis of Gaucher disease is suspected in individuals who have bone problems, enlarged liver and spleen hepatosplenomegaly , changes in red blood cell levels, easy bleeding and bruising from low platlets or signs of nervous system problems.
Laboratory testing involves a blood test to measure the activity level of the enzyme glucocerebrosidase. Individuals who have Gaucher disease have very low levels of this enzyme activity. Both enzyme and DNA testing can be done prenatally.
A bone marrow or liver biopsy is not necessary to establish the diagnosis. When the specific gene mutation causing Gaucher disease is known in a family, DNA testing can be used to accurately identify carriers.
However it is often not possible to predict the patient's clinical course based upon DNA testing. Enzyme replacement therapy is now available as an effective treatment for individuals who have symptoms from Gaucher disease. The treatment involves giving a modified form of the enzyme, glucocerbrosidase, by intravenous infusion every two weeks. Enzyme replacement therapy helps to stop progression and often reverse many of the symptoms of Gaucher disease, but does not affect the nervous system involvement.
Other treatments that have been required include: removal of the spleen splenectomy ; blood transfusions; pain medications; and joint replacement surgery. Gaucher disease is inherited in families in an autosomal recessive manner.
0コメント