Hepatolenticular degeneration is the fault of copper

Copper is an important trace element in the human body. People consume copper through food every day. Copper in the human body is finally excreted through metabolism, but when there is a problem in the metabolic process, it causes disease, and a typical disease induced by copper is hepatolenticular degeneration.

Gene problems cause copper metabolism disorders

The copper in the food is taken up by the body, absorbed into the blood through the intestines, and transported to the liver. 95% of copper binds to proteins synthesized by the liver to form ceruloplasmin, which carries copper to work in tissues and blood. Eventually, most of the copper in the body is excreted through the intestines through the bile, and traces of copper are excreted in the urine.

The metabolism of copper is carried out under the control of multiple genes. When one of the genes called ATP7B has problems, the metabolism of copper will be confused.

The ATP7B gene is the “Commander” for the production of copper transporters, which help copper move within cells and regulate the homeostasis of copper in the body. There is a problem with the ATP7B gene, and the produced transport enzyme is unqualified. Copper can not be transported and excreted normally, causing excessive copper accumulation in the liver, brain, kidney, cornea and other organs or tissues, leading to tissue damage and lesions. Cause clinical symptoms.

Corneal pigment ring is the main disease

The metabolism of copper in the human body has a problem, and hepatolenticular degeneration will occur. The disease was first described by Wilson in 1912, so the disease is also known as “Wilson’s disease.” In May 2018, in the “First Uncommon Diseases Catalogue” jointly developed by the National Health and Wellness Committee and other five departments, hepatolenticular degeneration was included.

The incidence of Wilson’s disease is 0.5/100,000 to 3/100,000. The age of onset is more common in 5 to 35 years old, and males are slightly more than females. 70% of patients with onset of liver symptoms, can be expressed as loss of appetite, weakness, liver discomfort, ascites, gastrointestinal bleeding. For patients in adolescence, due to liver damage caused by abnormal hormone metabolism, endocrine disorders, there may be delayed puberty, female menstrual irregularities or amenorrhea, male breast development and other symptoms. A small number of patients have onset of neurological symptoms, which are often characterized by unnatural facial expressions, unclear pronunciation, slow movements, and involuntary limbs.

At the same time, the corneal pigment ring is an important sign of the disease, the incidence rate is above 95%. A green-brown or golden-brown pigment ring is visible at the corneal and sclera junction of the patient, medically known as the “KF ring,” which is the expression of excessive copper deposition in the cornea.

When you find yourself with the above symptoms, you should go to the hospital immediately. The doctor will diagnose the disease by examining the ceruloplasmin, blood copper, urinary copper, and genes in the human body.

Immediate family members are ill, they must be screened

Since the body cannot normally metabolize copper, in order to ensure that the copper in the body is “not overloaded”, it is necessary to reduce the source of copper and increase the path of copper.

In terms of treatment, patients should have a low-copper diet, use drugs to reduce copper absorption and increase copper excretion. For copper-rich foods such as nuts, peas, corn, chocolate, shellfish, animal livers and blood products, try to avoid it. You can eat high-amino acid and high-protein foods to promote copper excretion.

The main drug used in clinical practice is the copper-releasing drug, and penicillamine is the preferred drug.

Considering that the disease is a hereditary disease, the brothers and sisters of the patient should also be screened for early diagnosis and early treatment. Diseases caused by genetic mutations may not be avoided, but formal, scientific treatments can control disease progression.