Congenital disorders of copper metabolism
Introduction
Introduction One is that copper cannot be synthesized into ceruloplasmin and is widely deposited in organ tissues such as liver, brain, kidney, and cornea. One is the reduction of copper transported from the intestinal mucosal cells into the blood and liver. Symptoms of Wilson's disease are cirrhosis, neurological abnormalities of dysfunction of the nucleus of the cerebral nucleus, ataxia, limb tremors, corneal KF rings (brown or gray-green rings on the outer edge of the cornea), pigmentation of the skin, Kidney abnormalities characterized by hypophosphatemia and hypouricemia, characterized by amino aciduria, phosphate urine, and uric aciduria.
Cause
Cause
Hepatolenticular degeneration (Wilson's disease)
This is a rare disease caused by autosomal recessive copper metabolism disorders, first reported by Wilson in 912. The cause of this disease is congenital copper metabolism disorder, which makes copper unable to synthesize ceruloplasmin and is widely deposited in organs such as liver, brain, kidney and cornea, causing cirrhosis, lenticular degeneration, renal insufficiency, corneal brown Prime ring, sometimes complicated by acute hemolysis. Serum copper concentration and ceruloplasmin oxidase activity decreased, and urinary copper excretion increased. Copper absorption increased in liver legume nuclear degeneration, reaching 56%. At the same time, the liver synthesis of ceruloplasmin is much less than normal, and the process of excreting copper from bile is disordered, so that a large amount of copper is deposited in the liver, and the concentration of liver copper is 20 to 50 times higher than that of normal people. When intrahepatic copper deposition exceeds the liver copper binding force, plasma free copper (non-ceruloplasmin-bound copper) rises to 5 to 10 times normal, which causes copper to settle in organ tissues such as liver, brain, cornea, and kidney. Causes harm.
2.Menke syndrome is also known as Menke
Hair curl syndrome or Menke wire-like hair syndrome is another disease in which congenital copper metabolism is abnormal. It is acutely inherited by the X chain. The decrease in copper in the blood, liver, and brain of patients, and the decrease in the activity of copper enzymes (such as cytochrome oxidase, connective tissue oxidase, dopamine -carboxylase, and tyrosinase) in tissues may be the basis of these lesions.
Examine
an examination
Related inspection
Ceruloplasmin ceruloplasmin (CP) serum copper (Cu2+, Cu)
Symptoms of Wilson's disease are cirrhosis, neurological abnormalities of dysfunction of the nucleus of the cerebral nucleus, ataxia, limb tremors, corneal KF rings (brown or gray-green rings on the outer edge of the cornea), pigmentation of the skin, Kidney abnormalities characterized by hypophosphatemia and hypouricemia, characterized by amino aciduria, phosphate urine, and uric aciduria. The serum copper concentration is usually lowered, the urinary copper excretion is significantly increased, the ceruloplasmin concentration is generally decreased, and the leukocyte pigment oxidase activity is decreased.
Menke's syndrome may be caused by a decrease in the amount of copper that is transported from the small intestinal mucosal cells into the blood and in the liver. Recently, fibroblast culture of the skin of patients with Menke's disease has been shown to indicate an increase in copper content. Therefore, the abnormality of cell delivery does not appear to be limited to intestinal mucosal cells.
Diagnosis
Differential diagnosis
Reduced absorbance of serum copper oxidase: an important manifestation of mental disorders associated with hepatolenticular degeneration.
Copper poisoning: Although copper is an important essential trace element, it is easy to cause poisoning reaction if it is not applied properly. In general, heavy metals have certain toxicity, but the toxicity is related to the way and dose of heavy metals entering the body. When taken orally, the toxicity of copper is premised on the absorption of copper. Metallic copper is not easily dissolved, and its toxicity is less than that of copper. In copper salts, water-soluble salts such as copper acetate and copper sulfate are particularly toxic. When copper exceeds 100 to 150 times the amount required by the human body, it can cause necrotizing hepatitis and hemolytic anemia. Symptoms of Wilson's disease are cirrhosis, neurological abnormalities of dysfunction of the nucleus of the cerebral nucleus, ataxia, limb tremors, corneal KF rings (brown or gray-green rings on the outer edge of the cornea), pigmentation of the skin, Kidney abnormalities characterized by hypophosphatemia and hypouricemia, characterized by amino aciduria, phosphate urine, and uric aciduria. The serum copper concentration is usually lowered, the urinary copper excretion is significantly increased, the ceruloplasmin concentration is generally decreased, and the leukocyte pigment oxidase activity is decreased.
