Wilson's Disease - High Yield Topic Series

The Copper-transporting ATPase gene that is defective in Wilson's disease is ATP 7B. Wilson's disease is a genetic disorder that affects the body's ability to regulate copper levels, leading to the accumulation of copper in various organs, particularly the liver and brain. The ATP 7B gene is responsible for encoding a protein that transports copper out of cells, and mutations in this gene result in impaired copper transport and the development of Wilson's disease.

Wilson's disease is an autosomal recessive disorder, meaning that an individual must inherit two copies of the mutated gene (one from each parent) in order to develop the disease. This pattern of inheritance explains why the answer is AR (autosomal recessive).

The locus of the ATP 7B gene is 13q14.3. This means that the gene is located on the long arm (q) of chromosome 13 at position 14.3.

Wilson's disease is a genetic disorder that causes copper to accumulate in the liver, brain, and other organs. It is characterized by various symptoms, including neurological problems such as chorea (involuntary movements), hemolytic anemia (destruction of red blood cells), and chronic active hepatitis (inflammation of the liver). However, testicular atrophy (shrinkage of the testicles) is not a feature of Wilson's disease.

ATP 7A is the Intestinal Copper-transporting ATPase gene

Wilson's disease is a genetic disorder characterized by the accumulation of copper in various tissues, particularly the liver and brain. The basic defect in Wilson's disease is the defective biliary excretion of copper. Normally, the liver produces a protein called ceruloplasmin, which helps to transport copper out of the liver and into the bile for excretion. However, in Wilson's disease, there is a mutation in the ATP7B gene, which leads to impaired function of the protein and subsequently, impaired excretion of copper into the bile. This results in the accumulation of copper in the liver and its subsequent release into the bloodstream, leading to its deposition in various organs and tissues.

Menkes disease is a rare genetic disorder that affects copper metabolism in the body. The condition is characterized by a deficiency of copper, which leads to various symptoms such as developmental delays, neurological problems, and abnormal hair growth. The treatment for Menkes disease involves early parenteral copper administration, which means providing copper directly into the bloodstream through intravenous or intramuscular injections. This helps to restore copper levels in the body and alleviate the symptoms. Supportive measures, such as physical therapy and nutritional support, are also important in managing the condition. Zinc, penicillamine, and trientine hydrochloride are not the recommended treatments for Menkes disease.

In Wilson's disease, there is deposition of copper in various tissues including the brain. This can lead to degeneration of the basal ganglia, which is part of the midbrain. T2-weighted MRI is best for visualizing abnormalities in the midbrain, including the characteristic "Face of Giant panda" sign. T1-weighted MRI may not show this sign as clearly. Therefore, the correct answer is T2-weighted MRI of the midbrain.

A liver biopsy is the gold standard test for Wilson disease because it allows for direct examination of the liver tissue to determine the presence of copper accumulation. Wilson disease is a genetic disorder that causes copper to accumulate in the body, particularly in the liver, leading to liver damage and other symptoms. Serum ceruloplasmin level, 24 hr urinary copper excretion measurement, and serum copper level can also be used as diagnostic tests, but they may not be as accurate or definitive as a liver biopsy.

KF ring, also known as Kayser-Fleischer ring, is a brownish-greenish deposition of copper in the Descemet's membrane of the cornea. It first appears in the superior and inferior limbal margins and can be seen with the naked eye in advanced cases. While KF ring itself does not cause visual problems, it is associated with Wilson's disease, a genetic disorder that affects copper metabolism and can lead to various neurological and hepatic symptoms. Therefore, the statement "copper deposition at the Descemet's membrane of retina" is false, as KF ring occurs in the cornea, not the retina.

ATP7A gene is located on chromosome Xq12-q13

Wilson's disease is a rare genetic disorder that causes copper to accumulate in the body, particularly in the liver and brain. While Wilson's disease can lead to liver damage, including cirrhosis, there is no direct association between Wilson's disease and an increased risk of developing hepatocellular carcinoma, which is a type of liver cancer. Therefore, the statement that Wilson's disease patients have a higher risk of developing hepatocellular carcinoma is false.

The prognostic index of Nazer of Wilson disease does not depend upon serum albumin. This means that the level of serum albumin does not have an impact on predicting the prognosis of Wilson disease according to Nazer's index. Other factors such as serum bilirubin, serum AST, and prolongation of prothrombin time may be considered in the prognostic index, but not serum albumin.