Kinnier Wilson disease, also known as Wilson disease, is a rare, inherited, autosomal recessive disorder characterized by the impaired metabolism and excessive accumulation of copper in the body. This disorder primarily affects the liver and brain, but it can also affect other organs such as the kidneys and corneas.
In individuals with Kinnier Wilson disease, there is a defective gene responsible for the production of a protein called ATP7B, which is involved in the transport and excretion of copper from the body. As a result, copper is not properly eliminated and instead accumulates in various tissues, especially the liver, leading to liver damage and dysfunction.
Some common symptoms of Kinnier Wilson disease include fatigue, jaundice, abdominal pain, and liver enlargement. Due to copper buildup in the brain, neurological symptoms may also develop, such as tremors, uncontrolled movements, speech difficulties, and behavioral changes.
If left untreated, Kinnier Wilson disease can lead to severe complications such as liver failure, cirrhosis, and neurologic deterioration. Therefore, early diagnosis is crucial. Treatment usually involves chelation therapy, which aims to remove excess copper from the body, alongside maintaining a low-copper diet. Medications that decrease the absorption of dietary copper may also be prescribed.
Since Kinnier Wilson disease is inherited, genetic counseling is recommended for families with affected individuals to understand the risk of passing on the disorder to future generations. With proper management and treatment, individuals with Kinnier Wilson disease can lead normal, productive lives.
