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

Definition

What is Wilson disease?

Wilson disease or Wilson disease is a birth defect or disorder that occurs because there is a buildup of copper levels in the body's organs, such as the liver, brain, eyes, and others.

Wilson disease or Wilson disease is a functional disorder or defect that affects the work of the body's organs.

That is why, this disease usually does not have a direct effect on the physical condition of the child, but rather leads to the function of the organs in his body.

The benefits of copper are important in the development of healthy nerves, bones, collagen, and the pigment melanin in the skin. Meeting the needs of copper can be obtained from the foods that a person consumes.

In normal cases, the liver will filter out excess copper levels and excrete it through bile.

Bile is a liquid made in the liver with the task of carrying toxins and body waste through the digestive tract.

But unfortunately, in children with Wilson disease or Wilson's disease, the liver fails to properly filter copper properly.

The accumulation of copper in the body can cause damage to body organs so that it is at risk of fatal consequences for the baby.

Disorders of the liver are usually an early form of Wilson disease or Wilson disease, especially in children and young adults.

Meanwhile, if this disease is experienced by the elderly, they usually do not show symptoms in the liver even though they have liver disease.

Most children and adults who have Wilson disease or Wilson's disease generally experience a buildup of copper on the front surface of the eye (cornea).

The buildup of copper in the cornea of the eye forms a circle resembling a green-brown ring called Kayser-Fleischer rings.

Circle of Kayser-Fleischer rings around the eyeball. In addition, Wilson disease or Wilson's disease is also a condition that makes the eye movements of children and adults who experience it become abnormal.

This eye movement abnormality is like the limited ability of the eye to look upwards.

How common is this condition?

Wilson disease or Wilson disease is a congenital birth defect or disorder in children that is classified as rare or rarely occurs.

The exact number of cases is not known Wilson disease or Wilson's disease. However, based on the page of the U.S National Library of Medicine, this one congenital disorder can be experienced by about 1 in 30,000 newborns.

Signs & Symptoms

What are the signs and symptoms of Wilson disease (Wilson disease)?

Genetic changes that trigger Wilson's disease can indeed be experienced by babies from newborns.

However, it usually takes several years for the amount of copper that has accumulated in the child's body, such as in the brain, liver, or other organs, reaches intolerable levels.

That is why the signs and symptoms of Wilson disease or Wilson disease generally appear first around the age of 6 years to the age of 45 years.

Even so, Wilson disease or Wilson disease is a congenital disorder that often starts in adolescence.

The most common form of Wilson disease or Wilson disease is a combination of liver disease, neurological disorders (neurological), and psychiatric disorders.

Meanwhile, when Wilson's disease is caught in adulthood, this condition can cause problems with the nervous system and psychiatric problems.

Wilson disease signs and symptoms include tremors, difficulty walking, speech problems, and thinking disorders.

In addition, children and adults with this disease often experience anxiety, mood swings, and depression.

Wilson disease or Wilson disease is a congenital disorder with signs and symptoms that can vary depending on which organs have an excess copper buildup.

Symptoms of Wilson disease in general

Some of the symptoms of Wilson disease or Wilson disease are as follows:

Decreased appetite
Severe fatigue
Eye color changes to a brownish green or slightly gold (Kayser-Fleischer rings)
Buildup of excess fluid in the legs or stomach
Speech problems, problems with swallowing, and problems with physical coordination
Stiffness of the muscles of the body
Uncontrolled body movements

Symptoms in the liver

Some of the symptoms related to disorders of the liver that can indicate Wilson disease or Wilson disease are as follows:

Loss of baby weight, toddler weight, child weight and adult body weight
Nausea and vomiting
Fatigue
Loss of appetite
Itching of the skin
Yellowish skin (jaundice)
Swelling of the legs and abdomen or abdomen due to fluid buildup
Abdominal pain or bloating
Visible blood vessels on the skin (spider angiomas)
Muscle cramp

Some symptoms, such as yellow skin and edema similar to the symptoms of liver failure or kidney failure.

That is why, Wilson disease or Wilson disease is a congenital disorder that is often confused with liver failure and kidney failure.

Symptoms of the nervous system

Some of the symptoms related to problems with the nervous system that can indicate Wilson disease or Wilson disease are as follows:

Weak memory or vision
Limp body
Abnormal gait
Hand movements become irregular

Mental health symptoms

Some of the symptoms related to mental health problems that can indicate Wilson disease or Wilson disease are as follows:

Mood changes, attitude changes, and behavior changes
The child is depressed
The child experiences anxiety

In severe cases, Wilson disease or Wilson's disease is a condition that can cause muscle spasms and pain in the muscles when doing certain movements.

Meanwhile, in other organs of the body, Wilson disease or Wilson disease is the accumulation of copper in the body which is characterized by various kinds of symptoms.

These symptoms include discoloration of the nails turning blue, kidney stones, premature bone loss or osteoporosis, arthritis, irregular menstruation, and low blood pressure.

Wilson disease or Wilson disease is a congenital disorder whose main symptom can be characterized by a brownish pigmentation on the cornea of the eye.

Launching from the Cleveland Clinic, this condition is known as Kayser-Fleischer rings which is used as an indication of Wilson disease in the body.

When to see a doctor

Given that Wilson disease is a hereditary disease, this condition is actually difficult to prevent. From the start, it is important to make a quick diagnosis to stop or inhibit excess copper buildup in the body.

Treatment that is late or not at all can lead to liver failure, brain damage, and other life-threatening and even fatal health conditions.

Therefore, if you see a child having the symptoms above or any other questions, consult a doctor immediately.

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

Cause

What causes Wilson disease?

The cause of the disease which was first discovered by dr. Samuel Alexander Kinnier Wilson in 1912 this is due to a mutation or change in the ATP7B gene on chromosome number 13.

This ATP7B gene plays a role in giving orders for the body to produce a protein called copper-transporting ATPase 2 or ATPase 2 copper transporter.

As the name implies, ATPase 2 is responsible for transporting copper from the liver to other parts of the body.

The body does need copper to support various functions. However, too much copper in the body can cause toxins to interfere with various body functions.

Well, excess copper levels in the body should be eliminated with the help of the copper transport protein ATPase 2 to return to normal.

It's just that, a mutation or change in the ATP7B gene can prevent the function of ATPase 2 from working properly.

If the copper removal process does not go well and properly, there will be a buildup of copper metal in the liver cells.

Furthermore, when the storage capacity of the liver cells exceeds the limit, copper will "spill" into the bloodstream and be stored in the organs where the bloodstream passes.

Copper buildup is commonly found in the brain and liver, but can also occur in other organs.

Mutations or changes in genes that cause Wilson disease are autosomal recessive. Therefore, Wilson disease is a disease that can only be inherited if both parents have mutated or altered genes (gene carriers).

Meanwhile, if a child only has one abnormal gene passed down from one parent, he will not develop symptoms of Wilson disease.

However, this makes the child a carrier of Wilsom disease and can pass the gene mutation to the offspring.

Risk Factors

What increases your risk of getting Wilson disease?

Wilson disease is a disease with an increased risk if a parent or other family member has this inherited disorder.

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

Talk to your doctor about whether or not you and your child should undergo genetic testing to find out the possibility of Wilson's disease.

Early diagnosis of Wilson disease can at least increase the chances of successful treatment.

Diagnosis & Treatment

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

What are the usual tests to diagnose Wilson disease?

Wilson disease is a disease that is sometimes difficult to diagnose because the signs and symptoms are similar to those of other liver diseases, such as hepatitis.

Diagnosis is usually made by doctors by combining the symptoms that appear with the results of the tests that have been carried out, whether it is examinations on newborns, children, or adults.

Some of the tests to diagnose Wilson disease or Wilson disease are as follows:

Blood and urine tests

Blood tests can help monitor liver function as well as check levels of protein in copper as well as levels of copper itself in the bloodstream.

In addition, this test also helps determine the level of copper excreted in the urine within 24 hours.

Eye test

The eye test in the diagnosis of Wilson disease is useful for checking the presence of Kayser-Fleischer rings due to excess copper levels in the eye.

This disease can also be associated with a type of cataract called sunflower cataract which can only be detected through an eye examination.

Liver biopsy test

Bipsi test is done by taking a sample of liver tissue. The tissue sample is then further tested in the laboratory.

Genetic test

Genetic testing is a test that can help detect genetic changes or mutations that cause Wilson disease.

What are the treatment options for Wilson disease?

The success of treating Wilson's disease depends largely on how quickly treatment of the disease is carried out.

Wilson disease is a disease that can usually be treated with medication or surgical procedures. Treatment usually consists of three stages and lasts continuously throughout life.

The first stage

The initial stage of treatment of this hereditary disease is the removal of all excess copper in the body through chelating therapy. Agent chelating include drugs such as d-penicillamine and tientin or siprine.

These medications remove excess copper in the organs into the bloodstream. Furthermore, the kidneys will play a role in the process of filtering blood and copper will leave the body through urine.

However, these types of drugs have side effects, including fever, redness, kidney problems, and bone marrow problems.

In pregnant women, drugs chelating it can also cause birth defects. Therefore, the consumption of these types of drugs MUST under the supervision of a specialist.

Second stage

After the process of removing the copper that has accumulated in the patient's body, the next step is to maintain copper levels in the body so that it remains in a normal state.

At this stage, the doctor will usually give you a drug in the form of zinc or tetrathiomolibdate. Zinc taken orally in the form of salt or acetate (Galzin) can keep the body from absorbing copper from food.