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Summary
WILSON DISEASE (WD)
HEPATOLENTICULAR DEGENERATION
277900
OMIM = Online Medalian Inheritance of Men
905
13q14.3
  • D-penicillamine
  • hemofiltration/hemodialysis/peritonealdialysis
  • liver transplantation
  • triethylene tetramine
  • zinc
rare (1:30000-100000 in France)
autosomal recessive
mutation in the ATP7B gene
Chronic liver disease in children or young adults is Wilson disease until proved otherwise .. (Danks DM 1990)
symptoms
abnormal movement
anemia
anorexia
ascites
ataxia
basal ganglia, changes, lesions, calcifications (MRI, CT)
behavior, abnormal or bizarre, confusion
bleeding tendencies, hemorrhages
cataract
cirrhosis or fibrosis of liver
clumsiness, coordination defect or unsteadiness
Coagulopathy/Coagulation factors
cognitive impairment
corneal clouding
corneal deposits
drooling
dysarthria
dyskinesia
dysphagia
dystonia
encephalopathy
Fanconi syndrome
heart involvement
hemiparesis/hemiplegia/hemiparetic cerebral palsy
hemolysis
hemolytic anemia
hepatomegaly (large liver)
hypoparathyreoidism
irritability
Kayser-Fleischer Ring
leukopenia
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
speech development, delayed, abnormal
splenomegaly (large spleen)
status epilepticus
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 12.0015.00g/dlblood
Bilirubin 3.4017.00+€mol/lserum
Transaminases 10.0030.00U/lserum
Ceruloplasmin0.000.00 mg/dlserum
Protein0.000.00 mmol/mol creatinineurine
MRI, brain, abnormalities -
Literature
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