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SB_Genetics (Pediatrics Royal College 2018) > Wilson Disease > Flashcards

Flashcards in Wilson Disease Deck (7)
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1
Q

What is the inheritance of Wilson Disease?

A

AR

2
Q

What is the genetic defect for Wilson Disease?

A

ATP7B gene DNA sequence analysis

3
Q

What is the pathophysiology of Wilson Disease?

A

Defective transport of copper from liver into

apoceruloplasmin and into the biliary system. Excess copper accumulation in liver.

4
Q

What are the associated medical findings for Wilson Disease?

A
1. Lifelong neurologic impairment
o Drooling
o Tremors
2. Fulminant hepatic failure
3. Cirrohiss, portal hypertensions
4. Hemolytic crisis (can be fatal)
5. Cerebral and brain stem atrophy
6. White matter changes on brain MRI
7. Kayser-Fleischer Rings
8. Low serum ceruloplasmin
5
Q

What are the developmental outcomes for Wilson Disease?

A
1. Adolescence
o Deteriorating handwriting
o Tremors
o Clumsiness
o Spasticity
o Academic decline
o Behavior disturbance
2. Psychiatric symptoms are common, especially:
a) Bipolar Disorder
b) Depression
c) Dysthymia
d) Psychosis
e) Schizophrenia
3. Cognitive decline (leading to intellectual disability)
4. Personality changes (irritability, disinhibition, impulsivity)
6
Q

What is the DDx for Wilson disease?

A
  1. Other causes of non-alcoholic chronic liver disease
  2. Acute RBC hemolysis
    3, Movement disorders
7
Q

What are the recommendations for Wilson Disease?

A
  1. Early Diagnosis and treatment can prevent progression
  2. Partner with Peds GI
  3. Copper chelation therapy
    o Penicillamine or triethylene tetramine dihydrochloride + oral zinc
  4. Copper avoidance
    o Shellfish, nuts, liver, chocolate