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Summary
WILSON DISEASE
HEPATOLENTICULAR DEGENERATION
277900
OMIM = Online Medalian Inheritance of Men
905
13q14.3
  • D-penicillamine
  • hemofiltration/hemodialysis/peritonealdialysis
  • liver transplantation
  • triethylene tetramine
  • zinc
rare (1:30.000-100.000 in France)
autosomal recessive
Chronic liver disease in children or young adults is Wilson disease until proved otherwise .. (Danks DM 1990)
symptoms
anemia
ascites
ataxia
behavior, abnormal or bizarre, confusion
bleeding tendencies, hemorrhages
cataract
cirrhosis or fibrosis of liver
corneal clouding
corneal deposits
dysarthria
dyskinesia
dysphagia
dystonia
encephalopathy
Fanconi syndrome
heart involvement
hemiparesis/hemiparetic cerebral palsy
hemolysis
hypoparathyreoidism
Kayser-Fleischer Ring
liver failure
liver involvement or dysfunction
night blindness
onset, adolescent
onset, adulthood
onset, childhood
osteoporosis
pain, abdominal
pancreatitis
progressive neurologic defect
proteinuria
pseudobulbar palsy
rickets
tremor or twitching
tubulopathy
vomiting
laboratory finding
Ceruloplasmin 20.0030.0065.00mg/dlplasma
Copper100.001000.000.0040.00-Ág/24hurine
Copper100.003000.000.0010.00-Ág/g dry weightliver (biopsy)
Copper20.0080.0090.00190.00-Ág/dlserum
Hemoglobine 12.0015.00decreasedblood
Bilirubin 3.4017.00increasedserum
Transaminases 10.0030.00increasedserum
Coagulopathy/Coagulation factors abnormalplasma
Ceruloplasmin0.000.00 decreasedserum
Protein0.000.00 increasedurine
Literature
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