Recently, an 18-year-old boy was admitted to the hospital with the main complaint of "hand tremors, dysgraphia for 4 months, and aggravation with salivation for 1 month". The patient's hands trembled and his writing was affected in January before the college entrance examination, and his family thought that it was caused by excessive pressure before the college entrance examination and did not pay attention to it. As time passed, the boy's hands trembled, he could not write, and he had drooling at the corners of his mouth, slurred speech, and his right foot shaking involuntarily.
The family took the boy to the local hospital for medical treatment, and the blood test results showed abnormal liver function, abdominal color ultrasound showed diffuse liver lesions, and oral hepatoprotective drugs** were given, and the patient's symptoms were still not good.
The attending doctor asked for a detailed medical history, conducted a physical examination, and when looking at the boy's pupils, he found that his cornea formed a golden-brown ring, similar to a "copper bell", combined with the results of cranial magnetic resonance, and preliminarily determined that the boy had a genetic disease - Wilson's disease.
When the boy's father heard that the doctor suspected a genetic disease, he immediately denied it, saying that there was no similar situation in the family, and that the boy's sister and brother were normal, and that he and the child's mother were all normal. Under the doctor's suggestion, the serum copper, 24-hour urine copper, ceruloplasmin and genes were examined, and the results showed that the patient's serum copper and ceruloplasmin results showed a significant decrease, and the 24-hour urine copper increased, indicating Wilson's disease, and finally, the genetic test results were positive for ATP7B gene, and Wilson's disease was confirmed.
What is Wilson's disease.
Wilson's disease, also known as Wilson disease, is an autosomal recessive genetic disease caused by ATP7B gene mutations, which is a copper metabolism disorder that leads to excessive copper storage in the body, and a large amount of copper accumulates in the liver, brain, kidney, bone joints, cornea and other tissues and organs, mainly affecting the basal ganglia and liver of the brain, which can occur at any age, especially in children and adolescents.
What are the symptoms of Wilson's disease.
The clinical manifestations are diverse, with liver injury and neurological symptoms being the most common, often manifested as persistent transaminases, acute and chronic hepatitis and even liver cirrhosis and severe extrapyramidal motor dysfunction, which can occasionally cause acute liver failure and hemolytic anemia. Its main characteristics are positive corneal K-F ring, decreased serum ceruloplasmin and increased 24-hour urine copper, and the condition varies from mild to severe, which seriously affects the child's physical and mental health.
03 Precautions for patients with Wilson's disease.
After the disease is diagnosed, it is necessary to use drugs to reduce the absorption and excretion of copper, and at the same time try to avoid eating all kinds of animal offal and blood, shellfish, shrimp and crabs, nuts, various beans and their products, duck and goose meat and other foods with high copper content, the disease is also one of the few treatable hereditary metabolic diseases, so early detection and early ** are very important for the prognosis of the disease, which can effectively avoid nervous system damage and serious liver disease.
Autumn and Winter Check-in Challenge