What is Wilson's disease? Causes and symptoms

This is an automatically translated article.

The article is professionally consulted by Master, Doctor Huynh An Thien - Neurologist - Department of Medical Examination & Internal Medicine - Vinmec Danang International Hospital.
Wilson's disease is a recessive genetic disease that often makes the body unable to eliminate excess copper, leading to accumulation of copper in body tissues, toxic to patients, even life-threatening. .

1. What is Wilson's disease?

What is Wilson's disease? This is a genetic disorder that causes the body to not be able to eliminate excess copper, leading to accumulation of copper in body tissues (liver, brain, eyes and other organs) and toxic to humans. disease, even life-threatening.
When computed tomography or magnetic resonance imaging can show ventricular dilatation, cortical atrophy and density changes as well as other abnormal signs in the basal nuclei.

2. Causes of Wilson's disease

Wilson's disease is caused by genetics that cause too much copper to accumulate in the body. The disease is inherited in an autosomal recessive gene. This means that in Wilson's disease, the body must receive 2 abnormal ATP7B genes (1 from the father and 1 from the mother). This is a rare genetic disorder, affecting 1 in 30,000 people.
In Wilson's disease, part of the gene located on chromosome 13 is inactive, (ATP7B). The gene helps control the release of copper by liver cells into the bile. However, due to an inoperable gene error, copper accumulates in liver cells, when the amount of copper is exceeded, it spills into the blood and is deposited in other organs of the body (brain, eyes and other organs). other).

3. Symptoms of Wilson's disease

Symptoms of Wilson's disease can be listed as follows:
Neurological: Extrapyramidal diffuse extrapyramidal dystonia in facial muscles, vocal cords, neck and lumbar muscles; when the patient exerts himself, walks, speaks, and sometimes there may be contralateral spasms; immobilize face, mouth, pharynx; difficulty speaking, slow speed, monotonous sound, dysphonia; walking and when standing difficult; eye disorders, drooling, acne, vasomotor disorders; Seizures or strokes may occur. Psychiatric: Patients often have emotional and mood disorders. Many cases of intellectual impairment tend to progress to mental decline, psychosis. Pigmentation disorders: The eyes appear green-brown Kayser - Fleischer rings, around the cornea at the posterior surface of Descemet's membrane. Copper can be deposited in the sclera and vitreous causing a sunflower-shaped cataract; light brown or light gray skin color. Digestive disorders: Loose stools with fever, vomiting, loss of appetite, abdominal pain, nosebleeds, bleeding gums, jaundice. Cirrhosis occurs with liver signs and then atrophy, portal hypertension, esophageal varices, and splenomegaly.

Changes in bones and joints, osteomalacia, pitting, fragile bones; In joints where there is calcification in the ligaments and cartilage ends can wear out. Endocrine disorders: Sexual activity is disturbed, accompanied by disorders of the interneuronal flora such as excessive sleep, low or slightly elevated body temperature, possibly diabetes. Some patients may experience hemolytic anemia or kidney damage causing proteinuria. Vinmec International General Hospital is one of the hospitals that not only ensures professional quality with a team of leading doctors, modern equipment and technology, but also stands out for its examination and consulting services. and comprehensive, professional medical treatment; civilized, polite, safe and sterile medical examination and treatment space.

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