Wilson Dx Flash Cards
1
Q
What is Wilson’s disease?
A
A rare autosomal recessive disorder of copper metabolism leading to copper accumulation in organs.
2
Q
Which gene is mutated in Wilson’s disease?
A
ATP7B gene.
3
Q
What is the primary site of copper accumulation in Wilson’s disease?
A
Liver and brain.
4
Q
What is the mode of inheritance of Wilson’s disease?
A
Autosomal recessive.
5
Q
At what age does Wilson’s disease typically present?
A
Between 5 and 35 years, but it can occur at any age.
6
Q
What are the main clinical features of Wilson’s disease?
A
Hepatic, neurological, and psychiatric symptoms.
7
Q
What are common hepatic manifestations of Wilson’s disease?
A
Hepatitis, cirrhosis, liver failure.
8
Q
What are common neurological symptoms of Wilson’s disease?
A
Dystonia, tremors, dysarthria, Parkinsonism-like symptoms.
9
Q
What psychiatric symptoms can be seen in Wilson’s disease?
A
Depression, personality changes, psychosis.
10
Q
What is the characteristic eye finding in Wilson’s disease?
A
Kayser-Fleischer rings (copper deposition in the cornea).
11
Q
How are Kayser-Fleischer rings detected?
A
Slit-lamp examination.
12
Q
What is the best initial test for Wilson’s disease?
A
Serum ceruloplasmin (typically low).
13
Q
What is the confirmatory test for Wilson’s disease?
A
24-hour urinary copper excretion (elevated).
14
Q
What is the role of hepatic copper quantification in Wilson’s disease?
A
Liver biopsy with copper quantification confirms diagnosis if other tests are inconclusive.
15
Q
What is the most sensitive diagnostic test for Wilson’s disease?
A
Hepatic copper content >250 mcg/g dry weight.
16
Q
What are the key laboratory findings in Wilson’s disease?
A
Low ceruloplasmin, high urinary copper, high hepatic copper content.
17
Q
What is the mainstay of treatment for Wilson’s disease?
A
Copper chelators like penicillamine or trientine.
18
Q
What is the mechanism of action of penicillamine?
A
Binds copper and promotes its excretion in urine.
19
Q
What are major side effects of penicillamine?
A
Nephrotoxicity, bone marrow suppression, worsening neurological symptoms.
20
Q
What is an alternative to penicillamine in Wilson’s disease treatment?
A
Trientine (fewer side effects).
21
Q
What is the role of zinc in Wilson’s disease?
A
Blocks intestinal copper absorption and is used for maintenance therapy.
22
Q
When is liver transplantation indicated in Wilson’s disease?
A
Acute liver failure or end-stage cirrhosis.
23
Q
What dietary recommendations should be given to a patient with Wilson’s disease?
A
Avoid high-copper foods (shellfish, nuts, chocolate, liver).
24
Q
Which neurological symptoms of Wilson’s disease are irreversible?
A
Advanced movement disorders and cognitive impairment.
25
What is the role of genetic testing in Wilson’s disease?
Identifies ATP7B mutations for confirmation and family screening.
26
How does Wilson’s disease affect the basal ganglia?
Copper accumulation causes movement disorders similar to Parkinsonism.
27
Which neuroimaging findings are associated with Wilson’s disease?
MRI shows 'face of the giant panda' sign in the midbrain.
28
What is the prognosis of Wilson’s disease with early treatment?
Good, with prevention of progression and normal life expectancy.
29
What is the relationship between Wilson’s disease and hemolytic anemia?
Copper toxicity can cause Coombs-negative hemolytic anemia.
30
Why do Wilson’s disease patients develop renal complications?
Copper accumulation can cause proximal tubular dysfunction (Fanconi syndrome).
31
What is the role of liver function tests in Wilson’s disease?
Elevated transaminases suggest hepatic involvement.
32
What is the characteristic urine finding in Wilson’s disease?
Increased 24-hour urinary copper excretion (>100 mcg/day).
33
Why is ceruloplasmin low in Wilson’s disease?
Defective ATP7B leads to impaired incorporation of copper into ceruloplasmin.
34
What is the main differential diagnosis for Kayser-Fleischer rings?
Primary biliary cholangitis (PBC).
35
What is the risk of untreated Wilson’s disease?
Progression to liver failure, neurological deterioration, and death.
36
What is the common initial presentation in children with Wilson’s disease?
Liver dysfunction (hepatitis, jaundice, cirrhosis).
37
What is the common initial presentation in adults with Wilson’s disease?
Neurological and psychiatric symptoms.
38
What is the effect of pregnancy on Wilson’s disease?
Copper chelation therapy should be continued, but teratogenic drugs like penicillamine should be avoided.
39
Why should penicillamine be used cautiously in pregnancy?
It can cause teratogenic effects and connective tissue abnormalities.
40
What is the difference between Wilson’s disease and hemochromatosis?
Wilson’s disease is caused by copper accumulation, while hemochromatosis is due to iron overload.
41
What is the inheritance pattern of Wilson’s disease?
Autosomal recessive.
42
Which liver biopsy finding is characteristic of Wilson’s disease?
Copper deposition in hepatocytes.
43
What is the role of plasmapheresis in Wilson’s disease?
Used in severe acute liver failure to remove excess copper.
44
How does Wilson’s disease affect menstrual cycles?
Can cause irregular menstruation or amenorrhea due to liver dysfunction.
45
What is the relationship between Wilson’s disease and osteoporosis?
Chronic liver disease in Wilson’s disease can lead to bone mineral loss.
46
What is the significance of the ATP7B gene?
It encodes a copper-transporting ATPase crucial for copper excretion.
47
How does Wilson’s disease affect blood clotting?
Liver dysfunction can lead to coagulopathy and increased bleeding risk.
48
What is the role of ophthalmologic evaluation in Wilson’s disease?
Detects Kayser-Fleischer rings, which are pathognomonic for the disease.
49
Why do Wilson’s disease patients have psychiatric symptoms?
Copper accumulation in the brain affects neurotransmitter function.
50
How does Wilson’s disease cause muscle rigidity?
Basal ganglia dysfunction leads to increased muscle tone and dystonia.
51
What is the first-line treatment for Wilson’s disease in children?
Zinc therapy to prevent copper absorption.
52
What is the earliest neurological sign of Wilson’s disease?
Dystonia or fine motor coordination difficulties.
53
Which ethnic groups have a higher prevalence of Wilson’s disease?
Higher prevalence in populations with consanguinity.
54
How does Wilson’s disease affect speech?
Causes dysarthria due to basal ganglia involvement.
55
What is the treatment goal in Wilson’s disease?
Lower serum copper and prevent organ damage.
56
What should be monitored during Wilson’s disease treatment?
Serum free copper, 24-hour urinary copper, and liver function tests.
57
What is Wilson’s disease?
A rare autosomal recessive disorder of copper metabolism leading to copper accumulation in organs.
58
Which gene is mutated in Wilson’s disease?
ATP7B gene.
59
What is the primary site of copper accumulation in Wilson’s disease?
Liver and brain.
60
What is the mode of inheritance of Wilson’s disease?
Autosomal recessive.
61
At what age does Wilson’s disease typically present?
Between 5 and 35 years, but it can occur at any age.
62
What are the main clinical features of Wilson’s disease?
Hepatic, neurological, and psychiatric symptoms.
63
What are common hepatic manifestations of Wilson’s disease?
Hepatitis, cirrhosis, liver failure.
64
What are common neurological symptoms of Wilson’s disease?
Dystonia, tremors, dysarthria, Parkinsonism-like symptoms.
65
What psychiatric symptoms can be seen in Wilson’s disease?
Depression, personality changes, psychosis.
66
What is the characteristic eye finding in Wilson’s disease?
Kayser-Fleischer rings (copper deposition in the cornea).
67
How are Kayser-Fleischer rings detected?
Slit-lamp examination.
68
What is the best initial test for Wilson’s disease?
Serum ceruloplasmin (typically low).
69
What is the confirmatory test for Wilson’s disease?
24-hour urinary copper excretion (elevated).
70
What is the role of hepatic copper quantification in Wilson’s disease?
Liver biopsy with copper quantification confirms diagnosis if other tests are inconclusive.
71
What is the most sensitive diagnostic test for Wilson’s disease?
Hepatic copper content >250 mcg/g dry weight.
72
What are the key laboratory findings in Wilson’s disease?
Low ceruloplasmin, high urinary copper, high hepatic copper content.
73
What is the mainstay of treatment for Wilson’s disease?
Copper chelators like penicillamine or trientine.
74
What is the mechanism of action of penicillamine?
Binds copper and promotes its excretion in urine.
75
What are major side effects of penicillamine?
Nephrotoxicity, bone marrow suppression, worsening neurological symptoms.
76
What is an alternative to penicillamine in Wilson’s disease treatment?
Trientine (fewer side effects).
77
What is the role of zinc in Wilson’s disease?
Blocks intestinal copper absorption and is used for maintenance therapy.
78
When is liver transplantation indicated in Wilson’s disease?
Acute liver failure or end-stage cirrhosis.
79
What dietary recommendations should be given to a patient with Wilson’s disease?
Avoid high-copper foods (shellfish, nuts, chocolate, liver).
80
Which neurological symptoms of Wilson’s disease are irreversible?
Advanced movement disorders and cognitive impairment.
81
What is the role of genetic testing in Wilson’s disease?
Identifies ATP7B mutations for confirmation and family screening.
82
How does Wilson’s disease affect the basal ganglia?
Copper accumulation causes movement disorders similar to Parkinsonism.
83
Which neuroimaging findings are associated with Wilson’s disease?
MRI shows 'face of the giant panda' sign in the midbrain.
84
What is the prognosis of Wilson’s disease with early treatment?
Good, with prevention of progression and normal life expectancy.
85
What is the relationship between Wilson’s disease and hemolytic anemia?
Copper toxicity can cause Coombs-negative hemolytic anemia.
86
Why do Wilson’s disease patients develop renal complications?
Copper accumulation can cause proximal tubular dysfunction (Fanconi syndrome).
87
What is the role of liver function tests in Wilson’s disease?
Elevated transaminases suggest hepatic involvement.
88
What is the characteristic urine finding in Wilson’s disease?
Increased 24-hour urinary copper excretion (>100 mcg/day).
89
Why is ceruloplasmin low in Wilson’s disease?
Defective ATP7B leads to impaired incorporation of copper into ceruloplasmin.
90
What is the main differential diagnosis for Kayser-Fleischer rings?
Primary biliary cholangitis (PBC).
91
What is the risk of untreated Wilson’s disease?
Progression to liver failure, neurological deterioration, and death.
92
What is the common initial presentation in children with Wilson’s disease?
Liver dysfunction (hepatitis, jaundice, cirrhosis).
93
What is the common initial presentation in adults with Wilson’s disease?
Neurological and psychiatric symptoms.
94
What is the effect of pregnancy on Wilson’s disease?
Copper chelation therapy should be continued, but teratogenic drugs like penicillamine should be avoided.
95
Why should penicillamine be used cautiously in pregnancy?
It can cause teratogenic effects and connective tissue abnormalities.
96
What is the difference between Wilson’s disease and hemochromatosis?
Wilson’s disease is caused by copper accumulation, while hemochromatosis is due to iron overload.
97
What is the inheritance pattern of Wilson’s disease?
Autosomal recessive.
98
Which liver biopsy finding is characteristic of Wilson’s disease?
Copper deposition in hepatocytes.
99
What is the role of plasmapheresis in Wilson’s disease?
Used in severe acute liver failure to remove excess copper.
100
How does Wilson’s disease affect menstrual cycles?
Can cause irregular menstruation or amenorrhea due to liver dysfunction.
101
What is the relationship between Wilson’s disease and osteoporosis?
Chronic liver disease in Wilson’s disease can lead to bone mineral loss.
102
What is the significance of the ATP7B gene?
It encodes a copper-transporting ATPase crucial for copper excretion.
103
How does Wilson’s disease affect blood clotting?
Liver dysfunction can lead to coagulopathy and increased bleeding risk.
104
What is the role of ophthalmologic evaluation in Wilson’s disease?
Detects Kayser-Fleischer rings, which are pathognomonic for the disease.
105
Why do Wilson’s disease patients have psychiatric symptoms?
Copper accumulation in the brain affects neurotransmitter function.
106
How does Wilson’s disease cause muscle rigidity?
Basal ganglia dysfunction leads to increased muscle tone and dystonia.
107
What is the first-line treatment for Wilson’s disease in children?
Zinc therapy to prevent copper absorption.
108
What is the earliest neurological sign of Wilson’s disease?
Dystonia or fine motor coordination difficulties.
109
Which ethnic groups have a higher prevalence of Wilson’s disease?
Higher prevalence in populations with consanguinity.
110
How does Wilson’s disease affect speech?
Causes dysarthria due to basal ganglia involvement.
111
What is the treatment goal in Wilson’s disease?
Lower serum copper and prevent organ damage.
112
What should be monitored during Wilson’s disease treatment?
Serum free copper, 24-hour urinary copper, and liver function tests.
