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Rare Diseases 2023

Doença: what é, symptoms and treatment

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Doença: what é, symptoms and treatment
Doença: what é, symptoms and treatment
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Wilson's disease is a rare genetic disease, caused by the body's inability to metabolize copper, causing copper to accumulate in the brain, kidneys, liver and eyes, causing people to become intoxicated.

This disease is hereditary, that is, it passes from parents to children, but it is only discovered, in general, between 5 and 6 years of age, when the child begins to show the first symptoms of copper poisoning, such as mental confusion, delusions, changes in behavior and personality, and coordination problems.

Wilson's disease has no cure, however it is important that the pediatrician, neurologist or general practitioner is consulted so that the most appropriate treatment can be initiated, which may involve changes in diet, use of medications and/or supplements of zinc and, in the most severe cases, liver transplantation.

Symptoms of Wilson's Disease

Wilson's disease symptoms usually appear from the age of 5 years and occur due to copper deposition in several places in the body, mainly brain, liver, cornea and kidneys, the main ones being:

  • Dementia;
  • Psychosis;
  • Tremors;
  • Delusions or confusion;
  • Difficulty walking;
  • Slow movements;
  • Changes in behavior and personality;
  • Loss of ability to speak;
  • Hepatitis;
  • Hepatic failure;
  • Abdominal pain;
  • Cirrhosis;
  • Jaundice;
  • Blood in vomit;
  • Occurrence of bleeding or bruising;
  • Weakness.

Another common feature of Wilson's disease is the appearance of reddish or brownish rings in the eyes, called the Kayser-Fleischer sign, which is a result of the accumulation of copper in this location. Copper crystals in the kidneys are also common in this disease, leading to the formation of kidney stones.

How the diagnosis is made

The diagnosis of Wilson's disease is made by evaluating the symptoms by the physician and the results of some laboratory tests.

The most requested tests that confirm the diagnosis of Wilson's disease are 24-hour urine, in which a high concentration of copper is observed, and the measurement of ceruloplasmin in the blood, which is a protein produced by the liver and is normally bonded to copper to have function. Thus, in the case of Wilson's disease, ceruloplasmin is found in low concentrations.

In addition to these tests, the doctor may request a liver biopsy, in which features of cirrhosis or hepatic steatosis are observed.

Treatment for Wilson's Disease

The treatment of Wilson's disease aims to decrease the amount of copper accumulated in the body and improve the symptoms of the disease. There are medicines that can be taken by patients, as they bind to copper, helping to eliminate it through the intestines and kidneys, such as Penicillamine, Triethylenemelamine, zinc acetate and vitamin E supplements, for example.

In addition, it is important to avoid consumption of foods that are sources of copper, such as chocolates, dried fruits, liver, seafood, mushrooms and nuts, for example.

In more severe cases, especially when the liver is severely compromised, the doctor may recommend a liver transplant. Understand how liver transplantation is performed.

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