Have you ever encountered a copper doll with "eyes like beautiful pupils", "can't eat chocolate", "can't eat shellfish", "can't eat local eggs"?
"Copper doll" disease is an autosomal recessive disorder of copper metabolism. Because the liver and Wilson's nucleus are often damaged, it is medically called "Wilson's disease". It was first reported by Dr. Wilson in 1912, so it is also known as Wilson's disease. #International Day of Rare Diseases#
Image from the Internet
Copper is one of the essential trace elements for the human body, and if the "expectant mother" is deficient in copper, it may cause fetal growth and brain development retardation. But the "copper doll" cannot contact copper too much. These patients have a series of clinical manifestations due to mutations in the ATP7B gene located on chromosome 13, resulting in the inability to excrete copper ions in the body. The incidence of the disease in the world is about 1/30000, and the incidence in China is 1/10000, which can occur at any age, with 7~12 years old.
Image from the Internet
The diagnosis of "copper dolls" is generally combined with clinical symptoms (mainly liver damage and nervous system damage), corneal KF ring (see figure), serum ceruloplasmin (< 200mg/L), 24-hour urine copper (adult > 100mg, children >40mg) and genetic analysis (ATP7BA gene mutation). Patients with confirmed diagnosis require lifelong treatment, with the primary goal being to treat copper overload. Treatment options include copper restriction, copper-repellent therapy, symptomatic therapy, and liver transplantation.
1. Limit copper intake: the daily copper content in food should not be > 1mg, avoid eating millet, soba noodles, brown rice, beans, nuts, potatoes, spinach, eggplant, pumpkin, dried vegetables, dried fruits, shellfish, shrimp and crabs, animal liver and blood, chocolate, cocoa, etc. If copper pipes are used in the home, it is recommended to test the copper content of drinking water.
2. Copper repellent drug treatment: through the use of strong chelating agents to achieve the purpose of removing copper, the current use of more penicillamine. The recommended dose is 250 mg-500 mg / day, increase 2 tablets every 4-7 days, no more than 12 tablets a day. For children and adults weighing < 45 kg, 250 mg/d is recommended as the initial dose. The drug is generally administered 1 hour before meals or 2 hours after meals. For patients who cannot tolerate penicillamine, trientine 500-750 mg/day for children and 750-1250 mg/day for adults can be given in 2-4 divided doses, also 1 hour before or 2 hours after meals. Copper deposition can also be prevented by oral zinc preparations. Zinc can interfere with copper absorption, of which zinc acetate has the best effect, but the gastrointestinal side effects of zinc gluconate are relatively small.
3. Symptomatic treatment: Patients with neurological, blood and other systemic symptoms need to be treated symptomatically.
4. Liver transplantation: Liver transplantation can be considered when patients have fulminant liver failure, decompensated cirrhosis, ineffective drug treatment and neurological symptoms that are difficult to control.
Image from the Internet
Regarding copper dolls, early detection, early diagnosis, and early treatment are the key. Wilson's disease can be detected by measuring serum ceruloplasmin and copper content in the body by measuring the patient's family members. For families with a clear genetic diagnosis, prenatal diagnosis may be performed when the mother becomes pregnant again.
The copper doll is not terrible, it is treatable. I have encountered a case of a 2-year-old child in pediatrics before, but he was found in time and took relevant treatment measures, and can now go to school and live normally.
So, let's pay attention to "copper dolls" together, pay attention to rare diseases, and make love not rare. #Rare diseases are actually not uncommon#