Flashcards in 68. Wilson disease (hepatolenticular degeneration) Deck (21):
wilson disease is AKA
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
copper accumulates in
liver, brain, kidneys, joints, cornea
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)
deposits in descemet membrane of cornea
1. chelation with penicillamine or trientine
2. oral zinc
• Copper normally enters the blood circulation in what form?
• In a patient with Wilson disease, which metal tends to accumulate in the liver, brain, cornea, kidneys, and joints?
• 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
• 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)
• You suspect Wilson disease in a patient referred to your neurology practice. What substance is classically decreased in lab studies?
• A man has Wilson disease. His physician informs him that which hepatic changes will likely occur?
Liver failure, cirrhosis, hepatocellular carcinoma
• What cancer is associated with Wilson disease?
• A patient with Wilson disease presents with choreiform movements. This is due to copper deposition in which area of the brain?
The basal ganglia
• 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)
• 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
• What type of anemia is associated with Wilson disease?
• A 30-year-old patient has new-onset dementia, elevated liver function tests, and discolored rings around his irises. Diagnosis?
• Copper is normally excreted into bile by a hepatocyte copper transporting ____, which is coded by the ____ gene on chromosome ____.
ATPase, ATP7B, 13
• A patient with Wilson disease that affects the kidneys will present with what syndrome?