珂珂是什么病 (珂珂百科)

珂珂是一种罕见的遗传性疾病， characterized by accumulation of copper in tissues and organs. It is caused by a mutation in the ATP7B gene, which encodes a protein that transports copper out of cells. This mutation leads to a buildup of copper in the liver, brain, and other organs, which can causea variety of health problems, including liver damage, neurological problems, and kidney failure.

症状

珂珂的症状 vary depending on the age of onset and the severity of the disease. In infants, the disease can cause liver failure, which can lead to death. In children and adults, the disease can cause a variety of neurological problems, including:

• 智力障碍
• 运动障碍
• 癫痫
• 视力问题
• 听力损失

珂珂还可引起 kidney failure, bone marrow failure, and heart problems.

诊断

珂珂的诊断 based on a physical examination, a family history, and laboratory tests. The laboratory tests can measure the levels of copper in the blood, urine, and liver. A liver biopsy can also be used to diagnose the disease.

治疗

There is no cure for珂珂, but treatment can help to manage the symptoms of the disease. Treatment may include:

• 药物 to remove copper from the body
• Liver transplant
• Kidney transplant
• Bone marrow transplant

预后

The prognosis for珂珂 varies depending on the age of onset and the severity of the disease. In infants, the disease is often fatal. In children and adults, the disease can be managed with treatment, but it can still lead to significant disability.

预防

There is no way to prevent珂珂, but genetic counseling can help to identify families at risk for the disease. If you have a family history of珂珂, you should talk to your doctor about the risks and benefits of genetic testing.

其他资源

• Mayo Clinic: Wilson's Disease
• National Institutes of Health: Wilson's Disease
• National Organization for Rare Disorders: Wilson's Disease