《肝豆状核变性伴发的精神障碍》
肝豆状核变性Hepatolenticular Degeneration (HLD), also known as Wilson’s disease, is a genetic disorder caused by a deficiency of copper-binding protein in the blood. This leads to accumulation of copper in various organs such as the brain, liver, and kidney, causing damage to these tissues. The condition was first described in 1912 by Wilson, who named it after his discovery.
The main symptoms of HLD are neurological and include tremors, stiffness, and tremulous movements that affect limbs. However, mental disorders can occur early on, starting from childhood or adolescence. The typical course involves a slow onset, with symptoms becoming more severe over time.
In addition to neurological symptoms, patients may experience psychiatric disturbances, including mood swings, irritability, anxiety, depression, aggression, and impulsivity. These symptoms often precede physical signs such as muscle rigidity, which are characteristic of the disease.
A significant portion of the population affected has a family history, accounting for about 20-30% of cases. Researchers have identified at least twenty-five different mutations within the gene responsible for this condition, located on chromosome 13. It remains unclear what causes the mutations.
Symptoms typically develop slowly, but they can become more severe over time. They may involve the brain, liver, and kidneys, affecting the nervous system, the digestive system, and the circulatory system. The progression of the disease is rapid in children and adolescents.
Prevention strategies should focus on minimizing the risk of transmission through close relationships. Although some studies suggest an increased risk among those with relatives diagnosed with the disease, further research is needed to confirm these findings. In addition, educating families about the disease’s risks is important.
Treatment options for HLD depend on the severity of symptoms and the presence of complications. Early diagnosis and prompt treatment improve outcomes. Treatment usually includes reducing copper intake and increasing copper excretion. Medications like choline, zinc, and copper antagonists help reduce copper levels in the body. Additionally, antipsychotic medications may be prescribed if psychiatric symptoms are present.
For patients with severe neurological symptoms, surgery might be considered in rare cases. Other treatments include dietary changes, avoiding foods high in copper, and ensuring adequate hydration and nutrition. Supportive care such as psychological counseling and financial assistance can significantly impact patient outcomes.
Finally, it is essential to maintain good health habits and avoid potential triggers that could worsen the disease. Regular follow-up appointments with healthcare professionals are crucial to monitor progress and adjust treatment plans accordingly. With proper management, many patients can lead fulfilling lives despite their condition.
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