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WILSON DISEASE (WD)

WILSON DISEASE (WD)
HEPATOLENTICULAR DEGENERATION
277900
OMIM = Online Mendelian Inheritance of Men
905
Copper-transporting ATPase 2
13q14.3
E83.0
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)
Laboratory findings    Bilirubin inc (serum)
    Ceruloplasmin inc (plasma)
    Ceruloplasmin dec (serum)
    Copper inc (liver)
    Copper inc (urine)
    Copper dec (serum)
    Hemoglobine dec (blood)
    Protein inc (urine)
    Transaminases (ASAT/ALAT) inc (serum)
SymptomsKayser-Fleischer Ring
   abnormal movement
   anemia
   anorexia
   ascites
   ataxia
   basal ganglia, changes, lesions, calcifications (MRI, CT)
   behavior, abnormal or bizarre, confusion
   behavior, aggressive
   cataract
   clumsiness, coordination defect or unsteadiness
   Coagulopathy/Coagulation factors
   depression
   drooling
   dysarthria
   dystonia
   hemolysis
   hemolytic anemia
   hepatomegaly (large liver)
   hypoparathyreoidism
   irritability
   jaundice
   leukopenia
   liver failure
   liver involvement or dysfunction
   pain, abdominal
   Parkinsonism
   pseudobulbar palsy
   psychosis
   speech development, delayed, abnormal
   speech difficulties
   thrombopenia, thrombocytopenia
   tremor or twitching
   tubulopathy
    bleeding tendencies, hemorrhages
    cirrhosis or fibrosis of liver
    cognitive impairment
    corneal clouding
    corneal deposits
    dyskinesia
    dysphagia
    encephalopathy
    Fanconi syndrome
    heart involvement
    hemiparesis/hemiplegia/hemiparetic cerebral palsy
    MRI, brain, abnormalities [-]
    night blindness
    onset, adolescent
    onset, adulthood
    onset, childhood
    osteoporosis
    pancreatitis
    paresis
    progressive neurologic defect
    proteinuria
    rickets
    splenomegaly (large spleen)
    status epilepticus
    vomiting