68. Wilson disease (hepatolenticular degeneration) Flashcards Preview

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Flashcards in 68. Wilson disease (hepatolenticular degeneration) Deck (21):
1

wilson disease is AKA

hepalenticular degeneration

2

wilson disease ( heplenticular degeneration )- mechanism

AR , mutation in hepatocyte copper transporting ATPase ( ATP7B gene, ch13) --> inadequate copper excretion into bile and blood ( low serum ceruloplasmin, low serum copper, high urine copper) --> accumulates in liver, brain, kidneys, joints, cornea

3

copper accumulates in

liver, brain, kidneys, joints, cornea

4

presentation

before 40 with
1. liver disease ( eg hepatitis, acute liver failure, cirhosis)
2. neurologic disease ( dysarthria, dystonia, tremor, parkinsonism
3. psyhiatric disease
4. Kayser - Fleisher rings
5. Hemolytic anemia
6. renal disease ( eg. Fanconi syndrome)

5

Kayser-Fleisher rings

deposits in descemet membrane of cornea

6

wilson disease-treatment

1. chelation with penicillamine or trientine
2. oral zinc

7

• Copper normally enters the blood circulation in what form?

As ceruloplasmin

8

• In a patient with Wilson disease, which metal tends to accumulate in the liver, brain, cornea, kidneys, and joints?

Copper

9

• Why would a patient with Wilson disease have asterixis?

Wilson patients eventually develop liver failure, which can present with asterixis because the liver cannot metabolize ammonia

10

• A man with a defective ATP7B gene is seen by a neurologist for parkinsonian symptoms. What portion of the brain is most likely degenerated?

The basal ganglia (due to copper deposition from Wilson disease)

11

• You suspect Wilson disease in a patient referred to your neurology practice. What substance is classically decreased in lab studies?

Ceruloplasmin

12

• A man has Wilson disease. His physician informs him that which hepatic changes will likely occur?

Liver failure, cirrhosis, hepatocellular carcinoma

13

• What cancer is associated with Wilson disease?

Hepatocellular carcinoma

14

• A patient with Wilson disease presents with choreiform movements. This is due to copper deposition in which area of the brain?

The basal ganglia

15

• A patient has a hemolytic anemia, asterixis, progressing dementia, and dysarthria. What is the treatment for this rare condition?

Chelation therapy with penicillamine or trientine, oral zinc (the patient has Wilson disease)

16

• The parents of a child with Wilson disease ask about the chances that their future children also having the disease. How do you respond?

There is a 25% chance, as Wilson disease has autosomal recessive inheritance

17

• What type of anemia is associated with Wilson disease?

Hemolytic anemia

18

• A 30-year-old patient has new-onset dementia, elevated liver function tests, and discolored rings around his irises. Diagnosis?

Wilson disease

19

• Copper is normally excreted into bile by a hepatocyte copper transporting ____, which is coded by the ____ gene on chromosome ____.

ATPase, ATP7B, 13

20

• A patient with Wilson disease that affects the kidneys will present with what syndrome?

Fanconi syndrome

21

• How does the mnemonic "Copper is Hella BAD" help you remember the classic features of Wilson disease?

Ceruloplasmin, Cirrhosis, Corneas, Copper Carcinoma (HCC), Hemolysis, Basal ganglia, Asterixis, Dementia Dyskinesia, Dysarthria

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