Gold Standard test for wilson disease is

24 hr urinary copper excretion measurement

Basic defect in wilson's disease is

Defective biliary excretion of copper

Which is the treatment of Menkes disease ?

Early parenteral copper administration and supportive measures

False about KF ring is

copper deposition at the descemets membrane of retina

first appear in the superior and inferior limbal margins

can be seen with naked eye in advanced cases

Face of Giant panda sign is seen in wilson's disease. In which cut, it is best seen?

T2-weighted MRI of the midbrain

T1-weighted MRI of the midbrain

Prognostic index of Nazer of wilson disease does not depend upon

prolongation of Prothrombin time

Wilson's Disease - High Yield Topic Series

1.

What is the inheritance pattern of Wilson's disease?
- A.
  
  AD
- B.
  
  AR
- C.
  
  X-linked
- D.
  
  None
Correct Answer
B. AR

Explanation
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).

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2.

Which is the Copper-transporting ATPase gene defective in Wilson's disease ?
- A.
  
  ATP 7A
- B.
  
  ATP 7B
- C.
  
  ATP13A
- D.
  
  ATP13B
Correct Answer
B. ATP 7B

Explanation
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.

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3.

Gene defective in Menkes Kinky Hair Disease is
- A.
  
  ATP 7A
- B.
  
  ATP7B
- C.
  
  ATP13A
- D.
  
  ATP13B
Correct Answer
A. ATP 7A

Explanation
ATP 7A is the Intestinal Copper-transporting ATPase gene

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4.

Which is the locus of ATP 7B gene ?
- A.
  
  13q14.3
- B.
  
  14q14.3
- C.
  
  8q13.3
- D.
  
  7q14.3
Correct Answer
A. 13q14.3

Explanation
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.

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5.

What is the inheritance pattern of Menkes disease ?
- A.
  
  AD
- B.
  
  AR
- C.
  
  X-linked
- D.
  
  None
Correct Answer
C. X-linked

Explanation
ATP7A gene is located on chromosome Xq12-q13

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6.

Gold Standard test for wilson disease is
- A.
  
  Serum Ceruloplasmin level
- B.
  
  24 hr urinary copper excretion measurement
- C.
  
  Serum copper level
- D.
  
  Liver Biopsy
Correct Answer
D. Liver Biopsy

Explanation
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.

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7.

Wilson's disease patient has more risk of developing Hepatocellular carcinoma.
- A.
  
  True
- B.
  
  False
Correct Answer
B. False

Explanation
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.

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8.

Basic defect in wilson's disease is
- A.
  
  Reduced ceruloplasmin
- B.
  
  Increased copper absorption
- C.
  
  Defective biliary excretion of copper
- D.
  
  None
Correct Answer
C. Defective biliary excretion of copper

Explanation
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.

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9.

Which is the treatment of Menkes disease ?
- A.
  
  Zinc
- B.
  
  Penicillamine
- C.
  
  Trientine hydrochloride
- D.
  
  Early parenteral copper administration and supportive measures
Correct Answer
D. Early parenteral copper administration and supportive measures

Explanation
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.

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10.

False about KF ring is
- A.
  
  Copper deposition at the descemets membrane of retina
- B.
  
  First appear in the superior and inferior limbal margins
- C.
  
  Causes no visual problems
- D.
  
  Can be seen with naked eye in advanced cases
Correct Answer
A. Copper deposition at the descemets membrane of retina

Explanation
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.

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11.

Face of Giant panda sign is seen in wilson's disease. In which cut, it is best seen?
- A.
  
  T2-weighted MRI of the midbrain
- B.
  
  T1-weighted MRI of the midbrain
- C.
  
  Both
- D.
  
  Noone
Correct Answer
A. T2-weighted MRI of the midbrain

Explanation
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.

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12.

Prognostic index of Nazer of wilson disease does not depend upon
- A.
  
  Serum bilirubin
- B.
  
  Serum AST
- C.
  
  Serum albumin
- D.
  
  prolongation of Prothrombin time
Correct Answer
C. Serum albumin

Explanation
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.

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13.

Which is NOT a feature of wilson's disease ?
- A.
  
  Testicular atrophy
- B.
  
  Chorea
- C.
  
  Hemolytic Anemia
- D.
  
  Chronic active hepatitis
Correct Answer
A. Testicular atrophy

Explanation
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.

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