Gaucher disease: symptoms, causes, treatment, etc. & bull; hello healthy

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Definition

What is Gaucher Disease?

Gaucher disease or Gaucher disease is a congenital birth defect that occurs due to the buildup of certain fatty substances in the body's organs, especially the lymph and liver.

This causes the body's organs to become larger than they should be, and even affects the function of these organs.

Fatty substances associated with Gaucher disease can also build up in bone tissue.

This condition certainly makes the bones weak and increases the risk of fractures. If the bone marrow is problematic, the child's blood clotting process can be disrupted.

What are the types of Gaucher disease (Gaucher disease)?

Gaucher disease or Gaucher disease is a congenital birth defect that affects various organs and tissues of the body.

Some types of Gaucher disease or Gaucher disease are as follows:

Type 1

Type 1 is the most common type of Gaucher disease. Type 1 is also known as non-neuronopathic Gaucher disease because the function of the brain and spinal cord is usually unproblematic.

Type 1 generally appears during childhood to adulthood.

Type 2

Type 2 is a type of Gaucher disease or Gaucher disease that affects babies and can cause serious brain damage.

Unlike type 1, Gaucher disease or Gaucher disease type 2 is a neuronopathic form because it affects the function of the brain and spinal cord as the central nervous system.

Gaucher disease type 2 usually results in life-threatening problems from infancy.

Type 3

Just like type 2, type 3 is a type of Gaucher disease or Gaucher disease which is neuronopathic because it affects the function of the central nervous system.

Although both can interfere with the function of the central nervous system, the severity of this congenital disorder type three tends to be slower than type two.

That is why a child with Gaucher's disease type 3 may have symptoms before the age of 2 years.

However, the progression of Gaucher type 3 disease is slow, so symptoms do not always appear immediately.

How common is Gaucher disease?

Gaucher disease or Gaucher disease is a congenital birth defect that causes problems in the body's organs, especially the lymph and liver.

Actually, the exact number of cases of Gaucher's disease is not known. It's just that, according to the U.S National Library of Medicine, this congenital disorder can occur in about 1 in 50,000 to 100,000 newborns and children.

Of the three types of Gaucher disease, type 1 is the most common form. Gaucher disease is often experienced by Jewish children of Eastern and Central European descent (Ashkenazi).

While the symptoms of this disorder can appear at any age, whether it's from infancy, children, to adulthood.

Signs & Symptoms

What are the signs and symptoms of Gaucher Disease (Gaucher disease)?

The signs and symptoms of Gaucher disease can vary widely even for the same species.

Siblings and even identical twins with this congenital disorder can have different levels of severity.

However, some children who experience this congenital disorder may experience mild symptoms or even show no symptoms at all.

The main symptoms in a child with Gaucher disease or Gaucher disease are as follows:

• Swelling of the liver and spleen (hepatosplenomegaly)
• Low red blood cell count in children (anemia)
• Easy bruising due to low platelet levels (thrombocytopenia)
• Experiencing bone disease, such as pain and fractures

Meanwhile, the symptoms of Gaucher disease or Gaucher disease according to the type are as follows:

Symptoms of type 1

Symptoms of Gaucher disease or Gaucher disease type 1 include disorders of the child's bones and enlargement of the liver and spleen.

Children can also experience anemia, thrombocytopenia, and impaired lung function.

Symptoms of type 2

Symptoms in type 2 are usually related to vision or eye problems, seizures in children, to damage to brain function.

Symptoms of type 2 usually appear since infancy and can be fatal due to severe skin problems or the accumulation of excess fluid (hydrops).

Symptoms of type 3

Symptoms of type 3 are the same as type 2 also involve disturbances in vision, damage to brain function, and seizures.

However, type 3 symptoms cause horizontal eye movements, aka sideways.

Most people who have Gaucher disease experience varying degrees of the following problems:

• Complaints against the stomach. This is because the liver and spleen are enlarged so dramatically that the stomach hurts.
• Bone abnormalities. Gaucher disease can weaken bones, increasing the risk of fractures. This condition can also interfere with the blood supply to the bones which can cause the bone to die.
• Blood disorders. Gaucher disease also attacks cells that play a role in blood clotting, causing easy bruising and nosebleeds.

In rare circumstances, Gaucher disease can affect brain function, causing abnormal eye movements, muscle stiffness, seizures, and difficulty swallowing.

When to see a doctor?

Gaucher disease or Gaucher's disease is a congenital disorder that can cause symptoms of varying severity.

If you see a baby having the symptoms above or other questions, consult a doctor immediately.

The health condition of each person is different, including babies. Always consult a doctor in order to get the best treatment regarding the health condition of your baby.

Cause

What causes Gaucher Disease?

The cause of Gaucher disease or Gaucher disease is due to a mutation (change) in a gene called GBA.

Launching from the National Human Genome Research Institute, mutations or changes in the GBA gene result in very low levels of glucokerebrosidase.

This is because the GBA gene is responsible for giving instructions to produce an enzyme called beta-glucokerebrosidase.

This enzyme ideally plays a role in the process of breaking down fatty substances in the body. If the body doesn't produce adequate levels of glucocerebrosidase, the child's body can't break down fat properly.

This condition can create fat accumulation in various organs of the body. Gaucher disease or Gaucher disease is a congenital birth defect that is passed from parent to child in an autosomal recessive pattern.

This means that children can develop this inherited disorder if they have mutated copies of the GBA gene from each parent.

In other words, both parents must be carriers of the GBA gene and then be able to pass on this congenital disorder to their children.

Carriers of the GBA gene do not necessarily cause parents to experience symptoms of Gaucher disease. Parents may not show any symptoms of this condition, but their bodies carry a mutated copy of the GBA gene.

Risk factors

What increases your risk of getting Gaucher Disease?

The risk of a baby developing Gaucher disease or Gaucher disease increases if born to Eastern and Central European (Ashkenazi) Jewish descent.

Newborn babies are also at risk for Gaucher disease or Gaucher disease if both parents are carriers of this condition.

If you want to reduce the risk factors that you and your baby may have, consult your doctor immediately.

Medicines & Medicines

The information provided is not a substitute for medical advice. ALWAYS consult your doctor.

What are the usual tests to diagnose this condition?

Diagnosis of Gaucher disease or Gaucher disease can be made by physical examination of the newborn, laboratory tests, or imaging tests.

During the physical exam, the doctor presses on the child's stomach to estimate the enlargement of the lymph organs and liver.

In addition, a diagnosis can also be made if the baby has bone problems, changes in red blood cell levels, easy bruising, or signs related to nervous system problems.

Furthermore, there is a laboratory test by means of taking a blood sample that can be checked for levels of the enzyme glucoserebrosidase which is associated with Gaucher disease.

If the child has Gaucher disease, the results of laboratory tests show a very low level of enzyme activity.

There are also regular imaging tests for children with Gaucher disease to see how the condition is progressing.

Some of the imaging tests to check for Gaucher disease or Gaucher disease are as follows:

• Dual energy X-ray absorptiometry (DXA). This test uses a low-grade X-ray to measure bone density.
• Magnetic resonance imaging (MRI). Uses radio waves and a strong magnetic field. An MRI can show whether the lymph or liver is enlarged and its impact on the bone marrow.

Finally, there are preconception checks and prenatal tests. You may consider genetic screening before starting your family if you or your partner are of Ashkenazi Jewish descent.

This examination can also be done if you or your partner have a family history of Gaucher disease.

The doctor may also recommend prenatal tests to see if the fetus is at risk for Gaucher disease.

How is Gaucher Disease treated (Gaucher disease)?

There is no cure for Gaucher disease, but treatment can at least help control symptoms and support child development.

However, mild Gaucher disease symptoms usually do not require treatment. Some of the medications that are usually given to help overcome Gaucher disease are as follows:

Enzyme replacement therapy

This procedure replaces the enzyme deficiency with artificial enzymes. This replacement enzyme is given intravenously in high doses over a two week interval.

But sometimes, there are children who experience allergies or hypersensitivity reactions to enzyme treatments.

Limit certain drugs

Oral drugs, such as miglustate (Zavesca) and eliglustate (Cerdelga), appear to interfere with the production of fatty substances that build up in people with Gaucher disease.

Nausea and diarrhea are common side effects that may occur.

If the child's symptoms are severe and not enough with the above measures, the doctor may recommend surgery or surgery, such as:

Bone marrow transplant

In this procedure, blood-forming cells that have been damaged by Gaucher are removed and replaced.

Unfortunately, a bone marrow transplant procedure is classified as having a high risk. Therefore, enzyme replacement therapy procedures are usually performed more frequently than bone marrow transplants.

Lymph removal

Before enzyme replacement therapy was available, lymph removal was a common treatment for this inherited disorder.

But now, this lymph removal procedure is the most recent treatment option for Gaucher disease.

Home Remedies

What are some lifestyle changes or home remedies that can be done to treat this condition?

Apart from taking medication and performing medical care, home treatment can also be done to help treat Gaucher disease in children.

A healthy diet, exercise, avoiding stress and other lifestyle changes can improve children's health conditions.

Be aware that the symptoms and severity of this congenital condition vary from child to child.

Some children may have mild symptoms, while some have serious health problems.

Try to find family and friends to provide emotional support for your child. Emotional support is very important to help children deal with health problems caused by this condition.

Try to learn as much as possible about this condition as well. The more you know, the more helpful it will be to treat this congenital disorder.

Read as much as you can about the disease and ask your doctor anything you don't understand about your child's condition. Follow steps that can help you or your child stay healthy and feel better.

Gaucher disease can also cause bone pain, which often makes it difficult for children to sleep well.

Such care enzyme replacement therapy (ERT) can also help treat this condition. If the child complains of discomfort in his body, let him rest.

Another complaint of Gaucher disease is fatigue. This is because anemia or a lack of red blood cells in your child's body can make him feel tired.

Here are some things you can do to treat children with anemia:

• Get plenty of rest or take a nap
• Break large tasks into lighter tasks
• Sleep early so that your child's sleep needs are fulfilled
• Stay active

If the pain and fatigue make it difficult for your child to walk or climb stairs, it's best to see a physical therapist.

Physical therapists can teach children to practice movement more easily. Don't forget, also get your children to stay physically active whenever possible.

If you have any questions, consult your doctor for the best solution to your problem.

Hello Health Group does not provide medical advice, diagnosis or treatment.