Home > Wilson's disease

1 Description

The Wilson's disease gene (WND) has been mapped to chromosome 13 (13q14.3) (2) and is expressed primarily in the liver, kidney, and placenta but has also been found in the heart, brain, and lung, albeit at much lower levels. The gene codes for a P-type ATPase that transports copper into bile and incorporates it into ceruloplasmin.

The mutant form of WND expressed in people with Wilson's disease inhibits the release of copper into bile. Bile is a liquid produced by the liver that helps with digestion. As the excretion of copper from the body is thus impaired, the copper builds up in the liver and injures liver tissue. Eventually, the damage causes the liver to release the copper directly into the bloodstream, which carries the copper throughout the body. The copper buildup leads to damage in the kidneys, brain, and eyes. If not treated, Wilson's disease can cause severe brain damage, liver failure, and death.

2 Symptoms and signs

Symptoms usually appear between the ages of 6 and 20 years, but sometimes not until the age of 30, and in rare instances up to age 50. The most classical sign are the Kayser-Fleischer rings - brown rings around the cornea in the eye - that result from copper deposition in Descemet's membrane of the corneaThe cornea is the curved, transparent layer that covers the front part of the eye and protects its lower structures. Together with the lens, the cornea refracts light and consequently helps the eye to focus. The cornea gives a larger contribution to the t. Other signs depend on whether the damage occurs in the liver, bloodBlood is a circulating tissue composed of fluid plasma and cells ( red blood cells, white blood cells, platelets). Medical terms related to blood often begin in hemo or hemato ( BE: haemo and haemato from the Greek word for "blood". Blood of different spe, central nervous systemThe human central nervous system consists of the brain and spinal cord. These lie in the midline of the body and are associated with the skull and vertebrae respectively. see Nervous System) The central nervous system along with the peripheral nervous sys, urinary systemThe urinary system is a system of organs, tubes, muscles, and nerves that work together to create, store, and carry, urine. The urinary system includes two kidneys, two ureters, the urinary bladder, two sphincter muscles, and the urethra. How does the uri, or musculoskeletal systemThe musculoskeletal system is an organ system that gives animals the ability to move by using the muscles and skeletal system to engage in locomotion. Bones also serve a role as support and to protect internal organs and in many organisms to store fat and. Many signs would be detected only by a doctor, like swelling of the liver and spleenThe spleen is a ductless, vertebrate gland that is not necessary for life but is closely associated with the circulatory system, where it functions in the destruction of old red blood cells and removal of other debris from the bloodstream, and also in hol; fluid buildup in the lining of the abdomen; anemia; low platelet and white blood cell count in the blood; high levels of amino acids, protein, uric acid, and carbohydrates in urine; and softening of the bones. Some symptoms are more obvious, like jaundice, which appears as yellowing of the eyes and skin; vomiting blood; speech and language problems; tremors in the arms and hands; and rigid muscles.