Wilsons Disease

1
Wilsons Disease

• By Hien Do

2
Overview

• What is Wilsons Disease?
• What is the Symptoms?
• How to Diagnose?
• What are the Treatments?

3
Introduction

• Describe in1912 by Dr, S.A. Kinnier Wilson.

• Abnormality in nerve cell and scarring of the
  liver.

Conclusion - POISON!!!
4
Copper Poisoning

• ATP7B gene on chromosome 13.
• P-type ATPase.
• Copper
• Bile.
• Waste

5
Copper Poisoning

• Mutant ATP7B gene on chromosome 13.
• Mutant P-type ATPase.
• Increases Copper Level
• Liver Damage
• Blood Stream
• Organs Damage

6
Symptoms

• Liver cirrhosis
• Brain dementia, mood disorder, psychosis, and
  parkinsonism.

http//www.fotosearch.com/comp/LIF/LIF127/3D714002
.jpg
http//fi.edu/brain/images/mri_brain.jpg
7
Symptoms

• Kidney renal tubular acidosis and kidney stone
• Eyes Kayser-Fleischer rings and cataracts.

http//www.urostonecenter.com/images/kub.jpg
http//www.chippewavalleyeyeclinic.com/lasik_wisco
nsin_images/61mature-cataract.jpg
http//www.gourmandizer.com/wilsons/images/kf2.jpg
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Symptoms

• Heart Cardiomyopathy and cardiac arrhythmia
• Skin Hidradenitis suppurativa
• Blood hemolysis leading to anemia

http//www.nature.com/jid/journal/v126/n6/images/5
700272f2.jpg
http//www.healthenlightenment.com/hemolysis.jpeg
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Who is at risk?
http//ghr.nlm.nih.gov/dynamicImages/chromomap/atp
7b.jpeg

• ATP7B mutation in1 percent of the population.

10
Who is at risk?

• 2 carrier parents
• Children
• 25 unaffected
• 50 carrier
• 25 have the disease

11
Diagnosis

• Testing for copper in urine, blood, or liver
  sample.
• Urine gt100 ug/day
• Blood lt80 ug/dL
• Liver sample gt250 ug/g dry weight
• Kayser-Fleischer ring

http//www.gourmandizer.com/wilsons/images/kf2.jpg
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Diagnosis

• Liver cirrhosis
• Abnormality in the brain
• X-ray
• MRI
• CT scan

http//www.fotosearch.com/comp/LIF/LIF127/3D714002
.jpg
http//fi.edu/brain/images/mri_brain.jpg
13
Treatments

• Chelating agents
• D-penicillamine
• Trientine hydrochloride
• Zinc
• Low copper diet
• Transplant

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D-penicillamine

• Generic Name Penicillamine
• Brand Names Cuprimine, Depen
• (100-250mg 351)

• 1953 chelating ability
• 1970 FDA approved
• Take orally with bioavalibility of 40-70.
• Most is removed in the urine.

http//upload.wikimedia.org/wikipedia/en/8/8f/Peni
cillamine.png
http//gsm.about.com/pictures/photo_us/067/cupr602
n.jpg
http//gsm.about.com/pictures/photo_us/006/depe001
t.jpg
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D-penicillamine

• Dosage is 500mg daily (6)
• Very limited in when it can be taken.
• Drug interaction
• Gold containing drugs
• Antimalarial drugs
• Cancer chemotherapy drugs
• Phenylbutazone.
• Digonix (lanoxin and lanoxicaps)
• Antacids

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D-penicillamine

• Additional supplement
• Iron
• Vitamin B6
• Side Effects
• Flu like symptoms, blood in urine, muscle
  weakness, or double vision.
• Abdominal pain, rash, nausea, vomiting,
  diarrhea, decrease taste, sore in mouth or
  increase wrinkling of skin.
• Possible birth defects. Contaminate breast milk.

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Trientine hydrochloride

• Generic Name Trientine
• Brand Name Syprine
• (100-250mg 209.51)
• 40-70 bioavailability.
• Most is removed in the urine.

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Trientine hydrochloride

• Dosage is 750 mg daily. (6)
• Very limited in when it can be taken
• Drug Interaction
• Copper
• Iron
• Vitamin B6

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Trientine hydrochloride

• Additional Supplement
• Copper
• Iron
• Vitamin B6
• Side Effects
• Copper deficiency, Iron deficiency, Anemia
• Asthma, Bronchitis, Dermatitis
• Fetus? Breast Milk?

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Zinc

• Cost (180-50mg 13.95)
• Dosage is 150mg daily
• Use to limit the absorption of copper from food.

http//www.everybodyfitness.com/images/zinc_twinla
b.gif
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Food to avoid
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/ChampignonMushroom.jpg
http//upload.wikimedia.org/wikipedia/commons/3/3f
/Hazelnuts.jpg
http//www.femail.com.au/img/dried_fruit.jpg
http//upload.wikimedia.org/wikipedia/commons/thum
b/f/f2/Chocolate.jpg/770px-Chocolate.jpg
http//upload.wikimedia.org/wikipedia/commons/thum
b/a/af/Cooked_mussels_DSC09244.JPG/800px-Cooked_mu
ssels_DSC09244.JPG
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Food to avoid
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cherries.jpg
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rticle154.jpg
http//images.usatoday.com/money/_photos/2004/09/3
0/general-mills-cereal.jpg
http//cheneybrothers.com/produce/prunes.jpg
http//www.borax.com/agriculture/graphics/soybeans
.gif
http//upload.wikimedia.org/wikipedia/commons/6/67
/Tofu-beijingchina.jpg
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Transplant

• Liver transplant

http//www.childrenfirst.nhs.uk/teens/images/treat
ments/liver_new.gif
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Additional info

• Patients checkup every 3 days.